ClinVar Miner

List of variants in gene NPC1 reported as benign for Niemann-Pick disease, type C1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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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.2911+28T>C rs6507720 0.56005
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.3754+34A>G rs2510344 0.48972
NM_000271.5(NPC1):c.1757+60G>A rs2435307 0.46769
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
NC_000018.10:g.23586581G>C rs8099071 0.11990
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+17T>G rs879174633 0.02464
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.1947+14G>T rs3745024 0.01574
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000271.5(NPC1):c.*164T>C rs8086463 0.01169
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.-32C>T rs114070977 0.00885
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.3535A>G (p.Met1179Val) rs61731969 0.00459
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
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.2795+19T>C rs200103695 0.00342
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
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.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
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.631+17C>T rs115397659 0.00083
NM_000271.5(NPC1):c.57+11G>C rs548958639 0.00074
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.1327-12dup
NM_000271.5(NPC1):c.1327-16dup
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGGT rs778092499
NM_000271.5(NPC1):c.1947+10_1947+11insGGGTG rs778092499
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+12_1947+13insGGGA rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT rs1555634656
NM_000271.5(NPC1):c.1947+15_1947+16insGC rs72283949
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
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+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insT rs1555634683
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2605-14del
NM_000271.5(NPC1):c.3246-6dup
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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