ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs) rs80359679
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer) rs1555515731
NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) rs1567755946
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627

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