ClinVar Miner

List of variants studied for CHARGE association by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 19
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HGVS dbSNP
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313

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