ClinVar Miner

List of variants studied for Desanto-shinawi syndrome

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Total variants: 18
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NM_016628.5(WAC):c.1101dup (p.Pro368fs)
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1437+1G>A rs1554791124
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs) rs1589247025
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) rs864321690
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) rs864321634
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs) rs1554792658
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.267_268dup (p.Asp90fs) rs864321691
NM_016628.5(WAC):c.367A>C (p.Lys123Gln)
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.405G>A (p.Trp135Ter)
NM_016628.5(WAC):c.498-2A>G rs1135401769

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