ClinVar Miner

List of variants in gene NPC1 studied for Inborn genetic diseases

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=) rs201460899 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000271.5(NPC1):c.3519A>G (p.Arg1173=) rs775542483 0.00005
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000271.5(NPC1):c.181-4A>C rs374571310 0.00004
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=) rs750054620 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.1140C>G (p.Leu380=) rs746501807 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 0.00003
NM_000271.5(NPC1):c.963G>A (p.Ala321=) rs763990769 0.00003
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys) rs368129141 0.00002
NM_000271.5(NPC1):c.2337C>T (p.Phe779=) rs367654655 0.00002
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.1038C>T (p.Cys346=) rs142119577 0.00001
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145 0.00001
NM_000271.5(NPC1):c.2251T>C (p.Leu751=) rs766114585 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe) rs1285316145 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 0.00001
NM_000271.5(NPC1):c.441C>T (p.Tyr147=) rs1388736731 0.00001
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu) rs887908568 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.870G>A (p.Val290=) rs149559712 0.00001
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu) rs2058949363
NM_000271.5(NPC1):c.1315A>C (p.Ile439Leu)
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1480G>C (p.Val494Leu)
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
NM_000271.5(NPC1):c.1727A>G (p.Lys576Arg)
NM_000271.5(NPC1):c.1792A>C (p.Asn598His)
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.206G>A (p.Gly69Asp)
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
NM_000271.5(NPC1):c.2133A>C (p.Arg711Ser)
NM_000271.5(NPC1):c.2182C>T (p.Leu728=)
NM_000271.5(NPC1):c.2203A>G (p.Met735Val)
NM_000271.5(NPC1):c.2227A>G (p.Thr743Ala)
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg) rs767708998
NM_000271.5(NPC1):c.25G>A (p.Gly9Ser)
NM_000271.5(NPC1):c.2617G>A (p.Val873Met)
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
NM_000271.5(NPC1):c.2646C>T (p.Tyr882=) rs2145373926
NM_000271.5(NPC1):c.271C>G (p.Leu91Val) rs773809600
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2844C>T (p.Asp948=)
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000271.5(NPC1):c.2920C>T (p.Pro974Ser)
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2998C>T (p.Pro1000Ser)
NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.370A>T (p.Thr124Ser)
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=) rs1621962
NM_000271.5(NPC1):c.3754+1del rs1835896772
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.382G>C (p.Asp128His)
NM_000271.5(NPC1):c.407A>G (p.Gln136Arg)
NM_000271.5(NPC1):c.442G>A (p.Val148Ile) rs200323346
NM_000271.5(NPC1):c.454T>A (p.Phe152Ile)
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.748A>C (p.Lys250Gln)
NM_000271.5(NPC1):c.762A>C (p.Pro254=)
NM_000271.5(NPC1):c.765T>A (p.Pro255=)
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)

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