ClinVar Miner

List of variants in gene SLC37A4 reported as pathogenic by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000011.9:g.(?_118898884)_(118900099_?)del
NM_001164277.1(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.1(SLC37A4):c.1123+1G>C
NM_001164277.1(SLC37A4):c.169_175del (p.Ser57fs)
NM_001164277.1(SLC37A4):c.170C>A (p.Ser57Ter)
NM_001164277.1(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.1(SLC37A4):c.381+1G>T
NM_001164277.1(SLC37A4):c.460del (p.Ile154fs)
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.1(SLC37A4):c.796_797del (p.Met266fs)
NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.936dup (p.Val313fs)

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