ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease by Illumina Laboratory Services, Illumina

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_000271.4(NPC1):c.-238C>G rs8099071 0.11990
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000543.5(SMPD1):c.-45G>C rs79282481 0.01446
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000271.4(NPC1):c.-179C>T rs145693774 0.01171
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_000271.5(NPC1):c.*68G>A rs139720390 0.00123
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000271.5(NPC1):c.1947+10G>C rs71534236

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