ClinVar Miner

List of variants in gene NPC1 reported as pathogenic for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_000271.3(NPC1):c.1140_1141del (p.Trp381Valfs)
NM_000271.4(NPC1):c.1065delC (p.Phe356Serfs) rs886043871
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1219C>T (p.Gln407Ter) rs775629081
NM_000271.4(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1628delC (p.Pro543Argfs) rs1555635957
NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) rs398123284
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2286_2287delCT (p.Phe763Cysfs) rs1057518613
NM_000271.4(NPC1):c.2604+1G>A rs1555633454
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2830G>A (p.Asp944Asn)
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.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2973_2974delGGinsAT (p.Gly992Trp) rs1555632971
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.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
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.3246-2A>G rs886042268
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3570_3573dupACTT (p.Ala1192Thrfs) rs750323164
NM_000271.4(NPC1):c.3613dupA (p.Thr1205Asnfs) rs886041356
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3734_3735delCT (p.Pro1245Argfs) rs1064794009
NM_000271.4(NPC1):c.423_424dup (p.Lys142Argfs) rs773941375
NM_000271.4(NPC1):c.423_424insGA (p.Lys142Glufs) rs1555641037
NM_000271.4(NPC1):c.526delC (p.Leu176Cysfs) rs1131691558
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.67delC (p.Gln23Serfs) rs886043131
NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) rs758687942
NM_000271.4(NPC1):c.973_974dupGA (p.Asp325Glufs) rs886044580

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