List of variants in gene SLC37A4 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 115

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HGVS	dbSNP	gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	rs80356490	0.00008
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	rs121908979	0.00004
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)	rs193302892	0.00003
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)	rs902775927	0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)	rs769726248	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)	rs1444468055	0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T	rs782630676	0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	rs786204740	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)	rs782313064	0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	rs80356489	0.00001
NM_001164277.2(SLC37A4):c.381+2T>G	rs782645078	0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)	rs193302879	0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	rs193302890	0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	rs193302881	0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	rs551439289	0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	rs193302889	0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	rs193302882	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)	rs782172072	0.00001
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.529_533del	rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)	rs1943525176
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)	rs2134628172
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)	rs121908975
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
NM_001164277.2(SLC37A4):c.1124+1G>A
NM_001164277.2(SLC37A4):c.1124+1G>C	rs782630676
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)	rs2134626765
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)	rs2134644472
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	rs2134626266
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)	rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A	rs1943672400
NM_001164277.2(SLC37A4):c.148+1G>T	rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.149-2A>G
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)	rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)	rs374848317
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	rs193302885
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)	rs1555191604
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)	rs2134639714
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	rs1182102272
NM_001164277.2(SLC37A4):c.381+1G>A	rs786204637
NM_001164277.2(SLC37A4):c.381+1G>T	rs786204637
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	rs2134638421
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)	rs1943618079
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)	rs1233639372
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)	rs2134637643
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)	rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)	rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	rs1943676862
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)	rs1272300904
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)	rs996440530
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)	rs2134644045
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
NM_001164277.2(SLC37A4):c.786-3_787del	rs2134633858
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)	rs1592111172
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs)	rs1592111112
NM_001164277.2(SLC37A4):c.871+1G>T	rs1943574435
NM_001164277.2(SLC37A4):c.872-7_873dup
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	rs193302903
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs)	rs2134631556
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)	rs2134631619
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)	rs1943557200
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)	rs1943556915
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.945_964del (p.Met315fs)	rs1943554287
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)	rs1943554955
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	rs1001301633
NM_001164277.2(SLC37A4):c.985+1G>A	rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>C
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)

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