ClinVar Miner

List of variants studied for syndromic dyslipidemia by Solve-RD Consortium

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
GRCh37/hg19 17q12(chr17:34842442-36065085)x3
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu) rs587777185
NM_001166114.2(PNPLA6):c.3088_3091dup (p.Lys1031fs)
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) rs587777184

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