ClinVar Miner

List of variants in gene SLC37A4 reported as pathogenic by OMIM

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Total variants: 16
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NM_001164277.1(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
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.1243C>T (p.Arg415Ter) rs121908979
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489
NM_001164277.1(SLC37A4):c.703_705GTG[1] (p.Val236del) rs121908977
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
SLC37A4, 12-BP INS, NT1103
SLC37A4, 170-BP DEL, NT148
SLC37A4, 4-BP DEL, 2-BP INS, NT1094
SLC37A4, 794G-A
SLC37A4, IVS1, G-A, +1
SLC37A4, IVS7, G-T, +1

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