List of variants in gene SPTLC1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006415.4(SPTLC1):c.1255-7C>T	rs7863487	0.01454
NM_006415.4(SPTLC1):c.781-6A>G	rs138268337	0.01288
NM_006415.4(SPTLC1):c.*124A>G	rs189582528	0.00666
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)	rs141292904	0.00272
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)	rs151283029	0.00153
NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe)	rs1372273697	0.00003
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	rs119482083	0.00001
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile)	rs760231916	0.00001
NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr)	rs765166668	0.00001
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)	rs119482084
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)	rs45461899

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