ClinVar Miner

List of variants studied for syndromic dyslipidemia by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg) rs2145961090
NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys) rs2081349672
NM_033419.5(PGAP3):c.355del (p.Leu119fs)

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