ClinVar Miner

List of variants in gene PNPLA8 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001256007.3(PNPLA8):c.1580G>A (p.Trp527Ter) rs1598909288
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys)
NM_001256007.3(PNPLA8):c.2174A>G (p.Glu725Gly)
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys)
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) rs786205882
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer)

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