ClinVar Miner

List of variants reported as uncertain significance for CHARGE association by Baylor Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913 0.00004
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) rs1794698535
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790

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