ClinVar Miner

List of variants in gene PDE6C reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) rs148661165 0.00218
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_006204.4(PDE6C):c.219G>T (p.Gly73=) rs140469169 0.00048
NM_006204.4(PDE6C):c.2160G>A (p.Thr720=) rs150319906 0.00044
NM_006204.4(PDE6C):c.315C>T (p.Asn105=) rs143619428 0.00027
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079 0.00010
NM_006204.4(PDE6C):c.1008G>A (p.Thr336=) rs146963508 0.00009
NM_006204.4(PDE6C):c.2209-6T>C rs201866070 0.00009
NM_006204.4(PDE6C):c.865-4C>T rs772853811 0.00009
NM_006204.4(PDE6C):c.481-4T>A rs535191090 0.00006
NM_006204.4(PDE6C):c.1176T>C (p.Ile392=) rs765966527 0.00002
NM_006204.4(PDE6C):c.1738-3dup
NM_006204.4(PDE6C):c.1738-9T>C

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