ClinVar Miner

List of variants in gene PNPLA1 reported as likely 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: 7
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914

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