ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "uncertain significance"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:

Total variants with conflicting interpretations: 44

HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_175914.5(HNF4A):c.-83C>T rs879092890 0.00008
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445 0.00002
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
GRCh37/hg19 17p13.3(chr17:525-632905)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3
GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000207.3(INS):c.292A>T (p.Ser98Cys) rs1252051752
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001130144.3(LTBP3):c.2829C>G (p.Cys943Trp)
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val) rs886042453
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001384479.1(AGT):c.292G>A (p.Gly98Arg)
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004656.4(BAP1):c.1673G>A (p.Ser558Asn) rs759973618
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_012145.4(DTYMK):c.239+1045_239+1050del rs1052974532
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.50-4630T>C rs2063407237

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.