ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
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.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys) rs368129141 0.00002
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 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.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.2126A>T (p.Tyr709Phe)
NM_000271.5(NPC1):c.2133A>C (p.Arg711Ser)
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.271C>G (p.Leu91Val) rs773809600
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2920C>T (p.Pro974Ser)
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.370A>T (p.Thr124Ser)
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
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.811A>G (p.Ile271Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.