ClinVar Miner

List of variants in gene combination LOC121815974, OAT reported as likely pathogenic for peripheral neuropathy

Included ClinVar conditions (524):
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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.677C>T (p.Ala226Val) rs121965059 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs) rs1468939642 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NM_000274.4(OAT):c.649-1G>C rs551144161
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.742G>T (p.Gly248Ter)
NM_000274.4(OAT):c.759C>A (p.Cys253Ter)
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.771+2T>C
NM_000274.4(OAT):c.771_771+7del rs1564731646

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