List of variants reported as pathogenic for Salla disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7

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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.918T>G (p.Tyr306Ter)	rs201284672	0.00013
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	rs1057516910	0.00001
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter)

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