ClinVar Miner

List of variants studied for syndromic dyslipidemia by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00004

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