ClinVar Miner

List of variants in gene CHD7 reported as likely pathogenic for CHARGE association

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Total variants: 55
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HGVS dbSNP
NM_017780.4(CHD7):c.1340_1341AG[1] (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2613+1G>T
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3201+1G>A
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5211-2_5227del
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5894+5G>A
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6104-2A>T
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577

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