List of variants reported as likely benign for Niemann-Pick disease, type A by Natera, Inc.

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)	rs2723669	0.00374
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)	rs142178073	0.00371
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	rs147258619	0.00349
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	rs148944108	0.00241
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)	rs140806787	0.00192
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	rs35122256	0.00150
NM_000543.5(SMPD1):c.1340+7C>T	rs116480929	0.00144
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)	rs143939609	0.00104
NM_000543.5(SMPD1):c.1091+9C>T	rs143612450	0.00103
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)	rs202206564	0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)	rs142147633	0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)	rs201134693	0.00011
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)	rs201659696	0.00006
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)	rs774989668	0.00005
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)	rs552841217	0.00004
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=)	rs138588535	0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)	rs1464825418	0.00003
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)	rs575601110	0.00002
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)	rs571806745	0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)	rs554647710	0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)	rs371141815	0.00001
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)	rs775860642
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)	rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])	rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)	rs775568984
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)	rs767122852

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