ClinVar Miner

List of variants in gene PNPLA6 reported as uncertain significance for not specified

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00451
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu) rs375024068 0.00011
NM_001166114.2(PNPLA6):c.1428G>C (p.Glu476Asp) rs1555745911
NM_001166114.2(PNPLA6):c.482del (p.Ala161fs) rs2023055005
NM_001166114.2(PNPLA6):c.679C>A (p.Gln227Lys) rs1363584164

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