List of variants in gene SPTLC2 reported as likely pathogenic for Neuropathy, hereditary sensory and autonomic, type 1C

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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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.545C>T (p.Ala182Val)	rs2140039094

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