ClinVar Miner

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

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.1119+21A>G rs714549 0.37089
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550 0.36884
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228 0.23737
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544 0.00670
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.413T>C (p.Leu138Ser) rs139456217 0.00121
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.939+2T>G rs1328017393 0.00001
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter) rs781699886
NM_006204.4(PDE6C):c.1738-3dup
NM_006204.4(PDE6C):c.1738-9T>C
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer) rs1236291370
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978

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