ClinVar Miner

List of variants reported as pathogenic for Salla disease by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	rs80338794	0.00049
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994

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