List of variants in gene SLC37A4 reported as likely pathogenic for hematologic disorder

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: 95

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HGVS	dbSNP	gnomAD frequency
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	rs121908979	0.00004
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
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.381+2T>G	rs782645078	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.652C>T (p.Gln218Ter)	rs551439289	0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	rs193302889	0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)	rs193302900	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_001164277.1(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.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A	rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
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+2T>A
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)	rs193302884
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.188_189delinsT (p.Ser63fs)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	rs193302885
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)	rs781857990
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)	rs2134640168
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)	rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)	rs1555191573
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)	rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A	rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-1del	rs1555191406
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	rs2134638421
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)	rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)	rs1555191105
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)	rs2134635160
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)	rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)	rs193302887
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)	rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.785+2T>G	rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A	rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G	rs2134633880
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)	rs1555190992
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)	rs1555190969
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)	rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-2A>C	rs920196110
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)	rs193302891
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)	rs1555190745
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)	rs1592109970
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
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>A
NM_001164277.2(SLC37A4):c.986-3_989del	rs1555190559

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