ClinVar Miner

List of variants in gene PNPLA1 reported as benign for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_001374623.1(PNPLA1):c.776-35G>A rs10947600 0.39147
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004

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