ClinVar Miner

List of variants in gene NPC1 reported as likely benign

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.4(NPC1):c.1947+16delG rs3837910
NM_000271.5(NPC1):c.*164T>C rs8086463
NM_000271.5(NPC1):c.-32C>T rs114070977
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.5(NPC1):c.1554-1010C>T rs142706876
NM_000271.5(NPC1):c.1554-1016C>T rs145998218
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)
NM_000271.5(NPC1):c.181-4A>C rs374571310
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insT rs1555634677
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.1947+8G>C rs66620415
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+10insGGAG rs772150994
NM_000271.5(NPC1):c.1947+9_1947+10insT rs1555634683
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.5(NPC1):c.2130+26T>A rs201543574
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3477+14C>T rs56043719
NM_000271.5(NPC1):c.3477+15A>G rs369049242
NM_000271.5(NPC1):c.3477+19T>C rs375942184
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.3592-42G>C rs149111199
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.463+19A>G rs117512587
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.631+17C>T rs115397659
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.72C>T (p.Ser24=) rs764560779
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.956-11C>T rs780491021
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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