ClinVar Miner

List of variants in gene NPC1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.*309_*315del rs145236115 0.00648
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
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.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
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.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023 0.00004
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln) rs969498640 0.00003
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 0.00001
NM_000271.5(NPC1):c.444C>T (p.Val148=) rs899764342 0.00001
NM_000271.5(NPC1):c.579G>A (p.Met193Ile) rs1412585368 0.00001
NM_000271.5(NPC1):c.888G>A (p.Arg296=) rs369775984 0.00001
NC_000018.9:g.21124907_21124908insCCGCC rs55809701
NM_000271.5(NPC1):c.1194C>G (p.His398Gln) rs2058950895
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1883A>C (p.Tyr628Ser) rs2058768795
NM_000271.5(NPC1):c.1911A>C (p.Leu637=)
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser) rs568942365
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile) rs752107020
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.309C>G (p.Asn103Lys)
NM_000271.5(NPC1):c.3220A>T (p.Ser1074Cys) rs2058635770
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=) rs1598935240
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3591+1_3591+7delinsTCTT
NM_000271.5(NPC1):c.3653C>G (p.Ser1218Cys)
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.3755-16TC[7] rs760529810
NM_000271.5(NPC1):c.57+4A>G rs1057519229

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