ClinVar Miner

List of variants in gene SLC37A4 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318 0.00019
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=) rs200713586 0.00013
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) rs561701030 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.238_239del (p.Phe80fs) rs1555191595
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=) rs368398459
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile) rs764654621
NM_001164277.2(SLC37A4):c.612dup (p.Glu205Ter) rs1555191211
NM_001164277.2(SLC37A4):c.985+247C>T

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