ClinVar Miner

List of variants in gene SPTLC2 reported as not provided for Neuropathy, hereditary sensory and autonomic, type 1C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)	rs775437084	0.00001
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met)	rs879254003

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