List of variants in gene SMPD1 reported as uncertain significance 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: 16

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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.1598C>T (p.Pro533Leu)	rs199915216	0.00070
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)	rs140202512	0.00034
NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)	rs369841281	0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)	rs202244080	0.00014
NM_000543.5(SMPD1):c.1037C>T (p.Ala346Val)	rs373508268	0.00011
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)	rs370178721	0.00009
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys)	rs570674743	0.00005
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)	rs148892841	0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)	rs757850587	0.00004
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)	rs772473982	0.00001
NM_000543.5(SMPD1):c.1337C>G (p.Ala446Gly)	rs559092380	0.00001
NM_000543.5(SMPD1):c.856G>A (p.Val286Ile)	rs1191633349	0.00001
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)	rs754979734
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161

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