ClinVar Miner

List of variants in gene CHD7 reported as pathogenic for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2413del (p.Ile805fs)
NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs)
NM_017780.4(CHD7):c.2867del (p.Ser956fs) rs1804068191
NM_017780.4(CHD7):c.2942del (p.Phe981fs)
NM_017780.4(CHD7):c.3065_3066dup (p.Ala1023fs) rs1804096857
NM_017780.4(CHD7):c.3221_3222insA (p.Tyr1075fs) rs1804153046
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3414_3430del (p.Gln1138fs) rs1554599036
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3779-2A>G
NM_017780.4(CHD7):c.3839_3840del (p.Phe1280fs)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5114dup (p.Val1706fs) rs1554602564
NM_017780.4(CHD7):c.5167dup (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5251del (p.Glu1751fs)
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5426T>G (p.Met1809Arg) rs1554603550
NM_017780.4(CHD7):c.5534+1G>A rs1554603589
NM_017780.4(CHD7):c.613C>T (p.Gln205Ter) rs1809058275
NM_017780.4(CHD7):c.6143_6144del (p.Glu2048fs) rs1554604059
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6426del (p.Ser2142_Leu2143insTer)
NM_017780.4(CHD7):c.6746del (p.Asp2249fs) rs1805570234
NM_017780.4(CHD7):c.7281dup (p.Arg2428fs) rs1554605030
NM_017780.4(CHD7):c.7764del (p.Asn2588fs) rs1805946988
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+1G>A rs1554606274
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.917_921del (p.Asn306fs) rs1563560966
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166

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