ClinVar Miner

List of variants in gene CHD7 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) rs1586426507
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter) rs1586248834
NM_017780.4(CHD7):c.5894+32C>G rs41265252
NM_017780.4(CHD7):c.6627del (p.Glu2210fs) rs1805560892
NM_017780.4(CHD7):c.6989del (p.Gly2330fs) rs1563664199
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.775del (p.His259fs) rs1809069833
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457

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