ClinVar Miner

List of variants in gene NPC1 reported by Invitae

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_000271.4(NPC1):c.3234_3237dupATTT rs863224902
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
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+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2096del (p.Val699fs)
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.3477+2T>C
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) rs1555631982
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser)
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
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.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.72C>T (p.Ser24=) rs764560779
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965

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