ClinVar Miner

List of variants in gene SLC37A4 reported as likely pathogenic

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Total variants: 39
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HGVS dbSNP
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001164277.1(SLC37A4):c.1124+2dup rs1459811938
NM_001164277.1(SLC37A4):c.1124-1G>A rs782202675
NM_001164277.1(SLC37A4):c.146del (p.Leu49fs) rs1064795433
NM_001164277.1(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.238_239del (p.Phe80fs) rs1555191595
NM_001164277.1(SLC37A4):c.269_270ins11 (p.?) rs1555191580
NM_001164277.1(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.1(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.1(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.1(SLC37A4):c.381+1G>A rs786204637
NM_001164277.1(SLC37A4):c.381+2T>G rs782645078
NM_001164277.1(SLC37A4):c.382-1del rs1555191406
NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.612dup (p.Glu205Ter) rs1555191211
NM_001164277.1(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289
NM_001164277.1(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.1(SLC37A4):c.706_707GT[3] (p.Phe237fs) rs781869215
NM_001164277.1(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
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.784+2T>G
NM_001164277.1(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164277.1(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900
NM_001164277.1(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.1(SLC37A4):c.871-2A>C rs920196110
NM_001164277.1(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.1(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.1(SLC37A4):c.986-3_989del rs1555190559

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