List of variants in gene SPTLC1 reported as pathogenic for Amyotrophic lateral sclerosis 27, juvenile

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)	rs1197928094
NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)	rs1478177125
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del)	rs2118840030
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)	rs879254294
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)	rs1554716504
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	rs267607087

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