ClinVar Miner

List of variants in gene NPC1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.882-288T>C rs1788760 0.75970
NM_000271.5(NPC1):c.2514+163T>C rs1788821 0.74853
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.1554-238A>G rs1652343 0.59569
NM_000271.5(NPC1):c.2605-70A>G rs7239575 0.56022
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.3042-158T>C rs12964689 0.48886
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.3478-177A>G rs11659341 0.13319
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.1554-681C>T rs61707929 0.12919
NM_000271.4(NPC1):c.-238C>G rs8099071 0.11990
NM_000271.5(NPC1):c.3246-242T>G rs71360526 0.11933
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+123T>G rs3745023 0.07660
NM_000271.5(NPC1):c.1654+58T>C rs9963518 0.03581
NM_000271.5(NPC1):c.2605-182G>T rs73392118 0.02681
NC_000018.10:g.23586828C>T rs8083325 0.02479
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.956-61C>T rs58319130 0.01514
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000271.5(NPC1):c.2911+72C>T rs56003892 0.01368
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.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000271.5(NPC1):c.3246-46C>T rs117851153 0.00718
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000271.5(NPC1):c.2130+56A>G rs145377000 0.00530
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.3598A>G (p.Ser1200Gly) rs35248744 0.00363
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.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.1553+152del rs11340795
NM_000271.5(NPC1):c.1554-880C>G rs1788762
NM_000271.5(NPC1):c.1655-233_1655-232del rs34182768
NM_000271.5(NPC1):c.1655-248_1655-247dup rs34182768
NM_000271.5(NPC1):c.1655-248dup rs34182768
NM_000271.5(NPC1):c.181-268_181-265del rs71825108
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+15_1947+16insGT rs72283949
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+90T>C rs35047242
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2245+109dup rs34563465
NM_000271.5(NPC1):c.2245+121_2245+122insCTTTTTTTTTTTTTC rs71373350
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.881+261_881+262dup rs112490232
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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