ClinVar Miner

List of variants reported as likely pathogenic for CHARGE association

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Total variants: 26
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HGVS dbSNP
NM_001316690.1(CHD7):c.1717-38296T>C
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399

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