List of variants in gene SPTLC2 reported as 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)
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Total variants: 8

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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.547C>T (p.Arg183Trp)	rs775437084	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.131A>G (p.Gln44Arg)	rs2503570171
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp)	rs1131691917
NM_004863.4(SPTLC2):c.544G>C (p.Ala182Pro)	rs864621998
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)	rs2079620247

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