ClinVar Miner

List of variants in gene SPTLC2 reported by OMIM

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004863.4(SPTLC2):c.1510A>T (p.Ile504Phe) rs267607091
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.4(SPTLC2):c.544G>C (p.Ala182Pro) rs864621998

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