ClinVar Miner

List of variants in gene PDE6D studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 11
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NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.140-3C>T rs368073853
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002601.4(PDE6D):c.371+8A>C rs75242814
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084

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