ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "likely pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:

Total variants with conflicting interpretations: 33

HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00707
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000204.5(CFI):c.111dup (p.Tyr38fs) rs1560546604
NM_000204.5(CFI):c.1149-2A>T rs1352826089
NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del) rs1560417427
NM_000222.3(KIT):c.1668_1686del (p.Gln556_Trp557insTer) rs1560417438
NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del) rs869025568
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser) rs2146061616
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.