List of variants in gene SMPD1 reported as uncertain significance for Sphingomyelin/cholesterol lipidosis

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)	rs142787001	0.00284
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	rs148944108	0.00241
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	rs35122256	0.00150
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	rs144873307	0.00111
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)	rs146630228	0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00071
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)	rs142215226	0.00061
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)	rs374604948	0.00014
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)	rs149476159	0.00011
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)	rs370178721	0.00009
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg)	rs368200803	0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)	rs370048730	0.00006
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala)	rs770561559	0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)	rs375224040	0.00001
NM_000543.5(SMPD1):c.283A>C (p.Lys95Gln)	rs886044321	0.00001
NM_000543.5(SMPD1):c.318+5G>A	rs375723261	0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys)	rs749595299	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala)	rs771028947
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)	rs1554933800
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)	rs775860642
NM_000543.5(SMPD1):c.1471A>C (p.Ile491Leu)	rs1429766647
NM_000543.5(SMPD1):c.1471A>G (p.Ile491Val)	rs1429766647
NM_000543.5(SMPD1):c.318+7A>G	rs747913628
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	rs797044798
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala)	rs1366957686
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)	rs1172255199
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys)	rs1319381364
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954

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