List of variants reported as benign for Niemann-Pick disease, type C1 by Illumina Laboratory Services, Illumina

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Total variants: 25

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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.-22A>C	rs2303880	0.08768
NM_000271.5(NPC1):c.1947+14G>T	rs3745024	0.01574
NM_000271.5(NPC1):c.2514+6C>T	rs73392120	0.01501
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)	rs7227375	0.01251
NM_000271.5(NPC1):c.*164T>C	rs8086463	0.01169
NM_000271.5(NPC1):c.-32C>T	rs114070977	0.00885
NM_006432.5(NPC2):c.442-4A>C	rs114950106	0.00742
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	rs9949660	0.00711
NM_006432.5(NPC2):c.*271C>T	rs75936194	0.00521
NM_006432.5(NPC2):c.190+14G>A	rs189666920	0.00476
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val)	rs61731969	0.00459
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)	rs34715591	0.00373
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)	rs34302553	0.00354
NM_000271.5(NPC1):c.540C>T (p.Asp180=)	rs143656971	0.00300
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)	rs13381670	0.00283
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	rs34226296	0.00268
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=)	rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=)	rs61731965

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