ClinVar Miner

List of variants in gene CHD7 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
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.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) rs1024797402 0.00001
NM_017780.4(CHD7):c.2740G>T (p.Glu914Ter) rs1586389368
NM_017780.4(CHD7):c.3778G>A (p.Gly1260Ser) rs1586405837
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter)
NM_017780.4(CHD7):c.8076+1G>C rs1563671108

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