ClinVar Miner

List of variants studied for Oculootoradial syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
NM_020436.5(SALL4):c.2607del (p.Gln869fs) rs1601166963

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