ClinVar Miner

List of variants in gene NPC1 reported as pathogenic for Niemann-Pick disease type C

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP
NM_000271.4(NPC1):c.1030delT (p.Ser344Leufs) rs483352883
NM_000271.4(NPC1):c.1133T>C (p.Val378Ala) rs120074134
NM_000271.4(NPC1):c.1171G>T (p.Glu391Ter) rs1555637139
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1554-1009G>A rs1055204017
NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.4(NPC1):c.1628delC (p.Pro543Argfs) rs1555635957
NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) rs483352879
NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.4(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.4(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.4(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.4(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) rs398123284
NM_000271.4(NPC1):c.2213C>A rs777286835
NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) rs483352882
NM_000271.4(NPC1):c.2302_2303insG (p.Val768Glyfs) rs483352881
NM_000271.4(NPC1):c.2324A>C (p.Gln775Pro) rs80358253
NM_000271.4(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.4(NPC1):c.2783A>C (p.Gln928Pro) rs28940897
NM_000271.4(NPC1):c.2795dupA (p.Tyr932Terfs) rs483352884
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.4(NPC1):c.2873G>A (p.Arg958Gln) rs120074132
NM_000271.4(NPC1):c.2912-3C>G rs483352892
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.306T>G (p.Tyr102Ter)
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3127A>G (p.Thr1043Ala) rs876661319
NM_000271.4(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258
NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.4(NPC1):c.3234_3237dupATTT rs863224902
NM_000271.4(NPC1):c.3246-2A>G rs886042268
NM_000271.4(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.4(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.4(NPC1):c.3517dup (p.Arg1173Lysfs) rs1555631982
NM_000271.4(NPC1):c.352_353delAG (p.Gln119Valfs) rs759075595
NM_000271.4(NPC1):c.3562delG (p.Glu1188Lysfs) rs758231839
NM_000271.4(NPC1):c.3591+1G>A rs786200877
NM_000271.4(NPC1):c.3611_3614del (p.Leu1204Glnfs) rs786200879
NM_000271.4(NPC1):c.3662del (p.Phe1221Serfs) rs786200878
NM_000271.4(NPC1):c.3742_3745delCTCA (p.Leu1248Valfs) rs774943545
NM_000271.4(NPC1):c.416_417insC (p.Asn140Lysfs) rs483352880
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) rs1057518711
NM_000271.4(NPC1):c.852delT (p.Phe284Leufs) rs762124334
NM_000271.4(NPC1):c.881+1G>T rs1555638409
NPC1, IVS16, G-A, -82

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