List of variants in gene SMPD1 reported as likely benign for Sphingomyelin/cholesterol lipidosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	rs72896268	0.00571
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)	rs61876771	0.00500
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)	rs2723669	0.00374
NM_000543.5(SMPD1):c.1091+9C>T	rs143612450	0.00103
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)	rs146630228	0.00072
NM_000543.5(SMPD1):c.1091+10G>A	rs148067213	0.00033
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)	rs370828368	0.00008
NM_000543.5(SMPD1):c.618C>T (p.Leu206=)	rs776180872	0.00005
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)	rs552841217	0.00004
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	rs200652683	0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)	rs369787650	0.00001
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)	rs750187574

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