ClinVar Miner

List of variants in gene SAMD9L studied for Spinocerebellar ataxia 49

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.3932A>T (p.Asp1311Val)
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs) rs745823605
NM_152703.5(SAMD9L):c.499C>A (p.Pro167Thr)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr) rs1433514195

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