List of variants reported as uncertain significance for Sphingomyelin/cholesterol lipidosis by Natera, Inc.

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		ClinVar version:

Total variants: 26

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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.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.8G>A (p.Arg3His)	rs199836262	0.00063
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.26G>T (p.Arg9Leu)	rs373013062	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.1055A>C (p.Glu352Ala)	rs771028947
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His)	rs1400503556
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.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.995C>G (p.Pro332Arg)	rs202081954

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