ClinVar Miner

List of variants studied for Niemann-Pick disease, type C1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu) rs140149624 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963 0.00009
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp) rs139485263 0.00009
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00006
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514 0.00002
NM_000271.5(NPC1):c.631+3A>G rs759746113 0.00002
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.30C>T (p.Leu10=) rs1432179735 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met) rs776593644 0.00001
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr) rs536360132 0.00001
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp) rs2058813808
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+13G>C rs568769965
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro) rs2145380651
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr) rs2145370245
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741

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