ClinVar Miner

List of variants reported as pathogenic by Division of Medical Genetics, University of Washington

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NC_000011.10:g.47339718_47339719delinsC rs727503192
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.706_707del (p.Gln236fs) rs1553412129
NM_000249.4(MLH1):c.1400del (p.Ser467fs) rs1064795515
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133

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