ClinVar Miner

List of variants studied for syndromic dyslipidemia by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_033419.5(PGAP3):c.209A>T (p.Tyr70Phe) rs146132289 0.00006
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_017837.4(PIGV):c.55C>T (p.Arg19Cys) rs759988046 0.00001

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