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

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Gene type: Distinguish antisense genes from sense genes

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	rs119482083	0.00001
NM_006415.4(SPTLC1):c.*12G>A
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.93_123dup (p.Lys42delinsAspProLeuAspAsnGlnThrSerPheLeuTer)
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	rs267607087

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