List of variants in gene SALL4 studied for Oculootoradial syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=)	rs6013281	0.99674
NM_020436.5(SALL4):c.1860A>G (p.Thr620=)	rs6021437	0.31314
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)	rs6126344	0.29917
NM_020436.5(SALL4):c.1056G>A (p.Ala352=)	rs13038893	0.29266
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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