ClinVar Miner

List of variants in gene NPC1 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.1166G>A (p.Arg389His) rs373751051 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251 0.00002
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala) rs1444308532 0.00001
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648 0.00001
NM_000271.5(NPC1):c.1327-2dup rs1555636712 0.00001
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg) rs747049347 0.00001
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys) rs1363313204 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3246-2A>G rs886042268 0.00001
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu) rs752409181 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NC_000018.9:g.(?_21148777)_(21153548_?)dup
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu) rs373751051
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro) rs2145447843
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala) rs1040639267
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser) rs1555636659
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr) rs1168944129
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1757+1G>A rs2058813191
NM_000271.5(NPC1):c.1758-3_1761del rs2511240863
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T rs2059231880
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1843C>G (p.Arg615Gly)
NM_000271.5(NPC1):c.1844G>A (p.Arg615His) rs773351341
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr) rs2145544950
NM_000271.5(NPC1):c.188G>C (p.Cys63Ser)
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu) rs1310067072
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn) rs776682510
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr) rs776682510
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly) rs2145394815
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys) rs2145394815
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr) rs757475924
NM_000271.5(NPC1):c.2246-2A>G rs2058712401
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser) rs2511222745
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro) rs770700616
NM_000271.5(NPC1):c.2514+1G>A rs757477471
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser) rs374068891
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala) rs1241975606
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr) rs977397569
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro) rs977397569
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2796-2A>T rs2511210964
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro) rs2511210759
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu) rs2511210490
NM_000271.5(NPC1):c.2911+2del rs2058678962
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg) rs769570326
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp) rs2511204987
NM_000271.5(NPC1):c.3041+2del rs2058665849
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2_3042-1del rs2511198096
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser) rs2511197628
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val) rs2511196908
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly) rs2511191394
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg) rs2145350224
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys) rs753637056
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser) rs765729815
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr) rs28942105
NM_000271.5(NPC1):c.3478-1G>C rs2511184326
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly) rs2511184148
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu) rs200444084
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val) rs2511183420
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro) rs2511183411
NM_000271.5(NPC1):c.3591+121C>T rs1444840655
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met) rs753419933
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val) rs2058572854
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro) rs2511176179
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.463+1G>A rs2511340604
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.631+1G>T rs2511308216
NM_000271.5(NPC1):c.881+1G>A rs1555638409
NM_000271.5(NPC1):c.956-1G>T rs756853895

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