List of variants in gene NPC1 reported as likely benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1947+17T>G	rs879174633	0.02464
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
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.3246-20G>A	rs6507717	0.01199
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
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.2795+19T>C	rs200103695	0.00342
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.1071G>A (p.Ser357=)	rs61731964	0.00282
NM_000271.5(NPC1):c.463+19A>G	rs117512587	0.00252
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	rs141440861	0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=)	rs144415945	0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	rs145145840	0.00103
NM_000271.5(NPC1):c.2604+14_2604+16del	rs747422358	0.00074
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)	rs147795644	0.00027
NM_000271.5(NPC1):c.3477+19T>C	rs375942184	0.00019
NM_000271.5(NPC1):c.2268C>T (p.Ala756=)	rs536329623	0.00003
NM_000271.5(NPC1):c.127G>A (p.Glu43Lys)	rs138277307	0.00001
NM_000271.5(NPC1):c.1947+10G>A	rs71534236
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.1947+16del	rs3837910
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG	rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+10dup	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup	rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup	rs3837910
NM_000271.5(NPC1):c.2131-21dup	rs11299077
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)	rs201118975
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=)	rs61731965

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