List of variants in gene SMPD1 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1486+26C>T	rs74053351	0.01163
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)	rs142178073	0.00343
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	rs147258619	0.00316
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	rs141641266	0.00282
NM_000543.5(SMPD1):c.1264-78A>G	rs112031494	0.00249
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)	rs140806787	0.00176
NM_000543.5(SMPD1):c.1091+194T>A	rs112712573	0.00110
NM_000543.5(SMPD1):c.*294G>C	rs12278115
NM_000543.5(SMPD1):c.107_130del (p.Val36_Leu43del)	rs550067660
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])	rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])	rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])	rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)	rs775568984

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