ClinVar Miner

Variants in gene MACF1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1693 142 0 68 35 1 2 100

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 6 0 0 0 0 0
likely pathogenic 6 0 1 0 0 0 0
uncertain significance 1 2 0 33 8 1 1
likely benign 0 0 32 0 62 0 0
benign 0 0 7 62 0 0 0

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001394062.1(MACF1):c.1916G>T (p.Gly639Val) rs139995582 0.00556
NM_001394062.1(MACF1):c.2429G>T (p.Cys810Phe) rs148207245 0.00510
NM_001394062.1(MACF1):c.15127G>T (p.Ala5043Ser) rs144760259 0.00497
NM_001394062.1(MACF1):c.15126A>C (p.Gln5042His) rs147777128 0.00392
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=) rs147586507 0.00361
NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=) rs141334491 0.00328
NM_001394062.1(MACF1):c.11260G>A (p.Val3754Ile) rs79847802 0.00296
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu) rs138819868 0.00290
NM_001394062.1(MACF1):c.14476T>C (p.Leu4826=) rs72661966 0.00288
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln) rs139794027 0.00250
NM_001394062.1(MACF1):c.3344A>T (p.His1115Leu) rs145184556 0.00222
NM_001394062.1(MACF1):c.11872T>C (p.Ser3958Pro) rs77561254 0.00217
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=) rs150560748 0.00198
NM_001394062.1(MACF1):c.14178C>T (p.Thr4726=) rs16826105 0.00190
NM_001394062.1(MACF1):c.17414G>A (p.Arg5805His) rs144615050 0.00165
NM_001394062.1(MACF1):c.12399G>A (p.Lys4133=) rs146610918 0.00159
NM_001394062.1(MACF1):c.16471C>T (p.His5491Tyr) rs78918472 0.00153
NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=) rs41307884 0.00147
NM_001394062.1(MACF1):c.21032C>T (p.Pro7011Leu) rs145113396 0.00129
NM_001394062.1(MACF1):c.2851A>G (p.Ser951Gly) rs139801751 0.00125
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser) rs148069432 0.00116
NM_001394062.1(MACF1):c.11056C>G (p.Leu3686Val) rs200157842 0.00115
NM_001394062.1(MACF1):c.14369C>T (p.Ala4790Val) rs139258331 0.00104
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met) rs141025026 0.00083
NM_001394062.1(MACF1):c.11743T>C (p.Ser3915Pro) rs148356076 0.00081
NM_001394062.1(MACF1):c.15729G>A (p.Ala5243=) rs72661968 0.00076
NM_001394062.1(MACF1):c.21196+4T>A rs200464985 0.00071
NM_001394062.1(MACF1):c.21795G>A (p.Arg7265=) rs141731743 0.00070
NM_001394062.1(MACF1):c.3054A>G (p.Glu1018=) rs138972929 0.00064
NM_001394062.1(MACF1):c.16367C>T (p.Thr5456Ile) rs150229499 0.00062
NM_001394062.1(MACF1):c.2754C>G (p.Pro918=) rs139266313 0.00052
NM_001394062.1(MACF1):c.20455G>A (p.Val6819Ile) rs146089082 0.00046
NM_001394062.1(MACF1):c.21209G>A (p.Ser7070Asn) rs112897114 0.00045
NM_001394062.1(MACF1):c.11307A>C (p.Pro3769=) rs148218605 0.00044
NM_001394062.1(MACF1):c.18372C>G (p.Thr6124=) rs145339018 0.00044
NM_001394062.1(MACF1):c.20742+6C>T rs112384658 0.00044
NM_001394062.1(MACF1):c.22445G>A (p.Arg7482Gln) rs77696779 0.00041
NM_001394062.1(MACF1):c.13675G>T (p.Val4559Phe) rs187137636 0.00038
NM_001394062.1(MACF1):c.22302C>T (p.Ser7434=) rs140592136 0.00038
NM_001394062.1(MACF1):c.13213G>C (p.Gly4405Arg) rs146021397 0.00033
NM_001394062.1(MACF1):c.14471C>T (p.Ala4824Val) rs143660961 0.00031
NM_001394062.1(MACF1):c.13080G>T (p.Gln4360His) rs150053411 0.00029
NM_001394062.1(MACF1):c.19344A>G (p.Glu6448=) rs148529836 0.00029
NM_001394062.1(MACF1):c.11325G>A (p.Ser3775=) rs150239827 0.00028
NM_001394062.1(MACF1):c.10881G>A (p.Gln3627=) rs138127207 0.00027
NM_001394062.1(MACF1):c.12480A>G (p.Gln4160=) rs148941386 0.00027
NM_001394062.1(MACF1):c.3444G>A (p.Leu1148=) rs144057132 0.00027
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_001394062.1(MACF1):c.19511G>A (p.Arg6504His) rs200611539 0.00023
NM_001394062.1(MACF1):c.3125A>G (p.Lys1042Arg) rs141861752 0.00023
NM_001394062.1(MACF1):c.2482-5T>C rs112859847 0.00022
NM_001394062.1(MACF1):c.11721C>G (p.Gly3907=) rs192201614 0.00021
NM_001394062.1(MACF1):c.11021A>T (p.Asp3674Val) rs59084124 0.00016
NM_001394062.1(MACF1):c.4520A>G (p.Asn1507Ser) rs144722126 0.00016
NM_001394062.1(MACF1):c.20766A>G (p.Glu6922=) rs199628828 0.00014
NM_001394062.1(MACF1):c.3032T>C (p.Leu1011Ser) rs778234716 0.00013
NM_001394062.1(MACF1):c.11741C>T (p.Pro3914Leu) rs148847012 0.00011
NM_001394062.1(MACF1):c.17494A>G (p.Met5832Val) rs144042918 0.00009
NM_001394062.1(MACF1):c.15478G>A (p.Glu5160Lys) rs181850215 0.00008
NM_001394062.1(MACF1):c.12502C>T (p.Arg4168Cys) rs185769891 0.00007
NM_001394062.1(MACF1):c.3577T>C (p.Ser1193Pro) rs751454750 0.00006
NM_001394062.1(MACF1):c.20257C>T (p.Arg6753Trp) rs769202456 0.00004
NM_001394062.1(MACF1):c.11324C>T (p.Ser3775Leu) rs768115646 0.00003
NM_001394062.1(MACF1):c.13588C>T (p.Leu4530=) rs140898090 0.00003
NM_001394062.1(MACF1):c.1544G>A (p.Arg515His) rs778551048 0.00003
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln) rs752117651 0.00003
NM_001394062.1(MACF1):c.2551G>A (p.Val851Ile) rs369570247 0.00003
NM_001394062.1(MACF1):c.3154C>T (p.Arg1052Trp) rs554979175 0.00003
NM_001394062.1(MACF1):c.13043C>T (p.Thr4348Met) rs544033336 0.00002
NM_001394062.1(MACF1):c.22484G>A (p.Arg7495Gln) rs1448260753 0.00002
NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln) rs559634261 0.00002
NM_001394062.1(MACF1):c.1244G>A (p.Arg415Gln) rs778364941 0.00001
NM_001394062.1(MACF1):c.12857C>T (p.Ala4286Val) rs573837366 0.00001
NM_001394062.1(MACF1):c.13228T>A (p.Ser4410Thr) rs763267162 0.00001
NM_001394062.1(MACF1):c.16772A>T (p.Asp5591Val) rs1259154169 0.00001
NM_001394062.1(MACF1):c.17633G>A (p.Arg5878His) rs368717141 0.00001
NM_001394062.1(MACF1):c.17942G>A (p.Arg5981His) rs771296302 0.00001
NM_001394062.1(MACF1):c.19355T>C (p.Met6452Thr) rs769900710 0.00001
NM_001394062.1(MACF1):c.21227C>T (p.Pro7076Leu) rs368764004 0.00001
NM_001394062.1(MACF1):c.2153C>A (p.Ser718Tyr) rs1457147107 0.00001
NM_001394062.1(MACF1):c.2452C>T (p.Arg818Cys) rs201616111 0.00001
NM_001394062.1(MACF1):c.3945+5G>C rs1489002936 0.00001
NM_001394062.1(MACF1):c.11584C>G (p.Leu3862Val) rs1647698933
NM_001394062.1(MACF1):c.13379A>G (p.Asn4460Ser) rs761190322
NM_001394062.1(MACF1):c.14346C>T (p.Ala4782=)
NM_001394062.1(MACF1):c.15283G>T (p.Val5095Phe) rs141949859
NM_001394062.1(MACF1):c.15828A>C (p.Lys5276Asn) rs1446925902
NM_001394062.1(MACF1):c.18710T>C (p.Leu6237Pro) rs1190655274
NM_001394062.1(MACF1):c.19575T>G (p.His6525Gln) rs143526587
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg) rs1488808726
NM_001394062.1(MACF1):c.21064G>A (p.Ala7022Thr) rs142006710
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr) rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly) rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe) rs1557670520
NM_001394062.1(MACF1):c.22282-4dup rs749977198
NM_001394062.1(MACF1):c.22446_22457del (p.7480GSRA[2]) rs781095837
NM_001394062.1(MACF1):c.3716G>T (p.Arg1239Leu) rs138873333
NM_012090.5(MACF1):c.10617+444_15577-288del
Single allele

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