List of variants in gene SPTLC1 reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)	rs141292904	0.00272
NM_006415.4(SPTLC1):c.985-5C>T	rs114380004	0.00245
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)	rs151283029	0.00153
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)	rs142153571	0.00041
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)	rs150756641	0.00035
NM_006415.4(SPTLC1):c.1137-6C>T	rs377583863	0.00025
NM_006415.4(SPTLC1):c.57+13C>G	rs746480091	0.00015
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=)	rs141265918	0.00011
NM_006415.4(SPTLC1):c.1410C>T (p.Ala470=)	rs537140001	0.00010
NM_006415.4(SPTLC1):c.963G>A (p.Arg321=)	rs756999851	0.00009
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)	rs748723735	0.00008
NM_006415.4(SPTLC1):c.354+12A>G	rs563679329	0.00007
NM_006415.4(SPTLC1):c.1254+10C>T	rs200704785	0.00006
NM_006415.4(SPTLC1):c.261-18A>G	rs755503027	0.00006
NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu)	rs773640417	0.00004
NM_006415.4(SPTLC1):c.252C>T (p.Ile84=)	rs150461552	0.00004
NM_006415.4(SPTLC1):c.1136+14A>T	rs746824163	0.00003
NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=)	rs201413090	0.00002
NM_006415.4(SPTLC1):c.1288C>T (p.Arg430Cys)	rs143754785	0.00002
NM_006415.4(SPTLC1):c.555T>G (p.Val185=)	rs768355407	0.00001
NM_006415.4(SPTLC1):c.609T>C (p.Arg203=)	rs373314300	0.00001
NM_006415.4(SPTLC1):c.1081+10T>C	rs1057522506
NM_006415.4(SPTLC1):c.1329-9T>C	rs778388513
NM_006415.4(SPTLC1):c.165+19_165+20del	rs1064794434
NM_006415.4(SPTLC1):c.560+16G>A	rs73512337
NM_006415.4(SPTLC1):c.888T>C (p.Asn296=)	rs761625053

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