ClinVar Miner

List of variants studied for Niemann-Pick disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.82+2T>C rs879253740

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