ClinVar Miner

List of variants reported as likely pathogenic by CSER_CC_NCGL; University of Washington Medical Center

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Total variants: 52
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1157G>A (p.Arg386His) rs141764916
NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.3349G>T (p.Glu1117Ter) rs141735183
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000312.3(PROC):c.125G>A (p.Arg42His) rs369504169
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000313.3(PROS1):c.728-1G>A rs368074804
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.612-2A>G rs370438420
NM_000363.4(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000535.5(PMS2):c.1144+1G>A rs373885654
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001001430.2(TNNT2):c.857G>A (p.Arg286His) rs141121678
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004415.3(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_007294.3(BRCA1):c.4358-2786G>A rs374435098
NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447

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