ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by Counsyl

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Total variants: 48
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HGVS dbSNP
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.27_29CCT[2] (p.Leu15del) rs1555645598
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) rs1555637509

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