List of variants in gene SPTLC1 studied for amyotrophic lateral sclerosis 27, juvenile

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006415.4(SPTLC1):c.1111G>A (p.Gly371Arg)	rs147143593	0.00011
NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu)	rs773640417	0.00003
NM_006415.4(SPTLC1):c.*12G>A
NM_006415.4(SPTLC1):c.1082-2A>G
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.571G>A (p.Ala191Thr)
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.93_123dup (p.Lys42delinsAspProLeuAspAsnGlnThrSerPheLeuTer)
NM_006415.4(SPTLC1):c.973A>G (p.Ile325Val)
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	rs267607087

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