ClinVar Miner

List of variants in gene SLC37A4 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.9:g.(?_118899922)_(118900089_?)del
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.1123+1G>C rs782630676
NM_001164277.1(SLC37A4):c.1179G>A (p.Trp393Ter)
NM_001164277.1(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.217C>T (p.Gln73Ter)
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.381+1G>T rs786204637
NM_001164277.1(SLC37A4):c.443C>T (p.Ala148Val) rs193302879
NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892
NM_001164277.1(SLC37A4):c.529_533del
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
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.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
NM_001164277.2(SLC37A4):c.1287_1290del rs1592107594
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
NM_001164277.2(SLC37A4):c.945_964del
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001164278.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164278.2(SLC37A4):c.936dup (p.Val313fs) rs782172072
NM_001164279.2(SLC37A4):c.-172+132C>A rs1444468055
NM_001164279.2(SLC37A4):c.-172+77dup
NM_001164279.2(SLC37A4):c.-172+96_-172+99del rs1447366650
NM_001467.6(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001467.6(SLC37A4):c.148+1G>T
NM_001467.6(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489
NM_001467.6(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001467.6(SLC37A4):c.460del (p.Ile154fs) rs769726248
NM_001467.6(SLC37A4):c.495G>A (p.Trp165Ter)
NM_001467.6(SLC37A4):c.675C>A (p.Tyr225Ter)
NM_001467.6(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001467.6(SLC37A4):c.927del (p.Gly310fs)
NM_001467.6(SLC37A4):c.929del (p.Gly310fs)
NM_001467.6(SLC37A4):c.958del (p.Arg319_Val320insTer)
NM_001467.6(SLC37A4):c.985+1G>A
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
SLC37A4, IVS8, 4-BP DEL

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