ClinVar Miner

List of variants in gene combination CHD7, LOC126860403 reported as uncertain significance by GeneDx

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.1673C>T (p.Pro558Leu) rs777480283 0.00003
NM_017780.4(CHD7):c.1690G>C (p.Glu564Gln) rs2487536422 0.00001
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264 0.00001
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu) rs1694045574 0.00001
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908 0.00001
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) rs1335682527 0.00001
NM_017780.4(CHD7):c.1667A>T (p.His556Leu) rs2150668937
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_017780.4(CHD7):c.1696C>T (p.Pro566Ser)
NM_017780.4(CHD7):c.1753G>T (p.Asp585Tyr) rs1064794401
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1864G>A (p.Gly622Ser) rs1811208950
NM_017780.4(CHD7):c.1867G>A (p.Gly623Arg) rs375905260
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg) rs200536932
NM_017780.4(CHD7):c.2002C>A (p.Pro668Thr)
NM_017780.4(CHD7):c.2009C>T (p.Thr670Ile)
NM_017780.4(CHD7):c.2024A>G (p.Lys675Arg) rs763438086
NM_017780.4(CHD7):c.2033A>G (p.Lys678Arg) rs2150670105
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln) rs755898600
NM_017780.4(CHD7):c.2083A>T (p.Ser695Cys) rs1173537400

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