ClinVar Miner

List of variants reported as likely pathogenic for CHARGE association by Invitae

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Total variants: 14
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HGVS dbSNP
NM_017780.4(CHD7):c.2613+1G>T
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
NM_017780.4(CHD7):c.3201+1G>A
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.5211-2_5227del
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5894+5G>A
NM_017780.4(CHD7):c.6104-2A>T
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7971+1G>T rs1554606274

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