ClinVar Miner

List of variants in gene SLC37A4 reported as pathogenic for not provided

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Total variants: 8
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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.742C>T (p.Gln248Ter) rs781784543 0.00002
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.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.786-3_787del rs2134633858
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs) rs1592111112

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