ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val) rs141892620 0.00005
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys) rs770762664 0.00001
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser) rs373815982 0.00001
NM_000271.5(NPC1):c.2674G>C (p.Val892Leu) rs2145373610
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.746C>T (p.Pro249Leu)

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