ClinVar Miner

List of variants studied for CHARGE association by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 20
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HGVS dbSNP
NM_001042681.2(RERE):c.4307_4312TCCACC[3] (p.1436_1437LH[3]) rs1064793252
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_017780.4(CHD7):c.1340_1341AG[1] (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_021140.3(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584

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