List of variants reported as benign for Niemann-Pick disease, type C1 by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	rs1788799	0.73957
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	rs1805082	0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)	rs1140458	0.45824
NM_000271.5(NPC1):c.644A>G (p.His215Arg)	rs1805081	0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	rs12970899	0.13133
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	rs1805084	0.10225
NM_000271.5(NPC1):c.1554-1021A>T	rs73392141	0.02008
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
NM_000271.5(NPC1):c.2514+6C>T	rs73392120	0.01501
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	rs9949660	0.00711
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000271.5(NPC1):c.882-40T>A	rs144469784	0.00420
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)	rs35248744	0.00363
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)	rs34302553	0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	rs34084984	0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00352
NM_000271.5(NPC1):c.540C>T (p.Asp180=)	rs143656971	0.00300
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	rs151125564	0.00150
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_000271.5(NPC1):c.3717C>T (p.His1239=)	rs34624018	0.00030
NM_000271.5(NPC1):c.1554-1057G>C	rs189881566
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.2131-4del	rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del	rs11299077
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=)	rs61731965

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