ClinVar Miner

List of variants reported as likely pathogenic by CSER _CC_NCGL, University of Washington

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_007294.4(BRCA1):c.4358-2786G>A rs374435098 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) rs141735183 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000312.4(PROC):c.125G>A (p.Arg42His) rs369504169 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489

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