ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive congenital ichthyosis 10

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Total variants: 9
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NM_173676.2(PNPLA1):c.-20C>T rs922934422
NM_173676.2(PNPLA1):c.-80-20712C>A rs533584507
NM_173676.2(PNPLA1):c.-80-20805C>G rs1373230987
NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) rs781053760
NM_173676.2(PNPLA1):c.329C>T (p.Pro110Leu) rs766215523
NM_173676.2(PNPLA1):c.452G>C (p.Arg151Pro) rs746575171
NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) rs369445146
NM_173676.2(PNPLA1):c.535del (p.Arg179fs) rs1170446813
NM_173676.2(PNPLA1):c.65C>T (p.Thr22Met) rs371307766

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