ClinVar Miner

List of variants in gene PDE6C reported as uncertain significance for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_006204.4(PDE6C):c.*209T>C rs530054025
NM_006204.4(PDE6C):c.*235A>T rs543722110
NM_006204.4(PDE6C):c.*247A>C rs563701427
NM_006204.4(PDE6C):c.*26A>G rs112520932
NM_006204.4(PDE6C):c.*87C>T rs540915530
NM_006204.4(PDE6C):c.-21C>T rs374900090
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663
NM_006204.4(PDE6C):c.1072-8C>T rs781649493
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507
NM_006204.4(PDE6C):c.1482+9T>C rs201702907
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.1935+4C>T rs373290960
NM_006204.4(PDE6C):c.1936-9A>G rs182445749
NM_006204.4(PDE6C):c.2037-13G>C rs765202218
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2144+15T>C rs201956926
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.2208+14A>C rs61701022
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) rs1554892197
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) rs1554892199
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.724-15G>T rs141403797
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715
NM_006204.4(PDE6C):c.864+13C>T rs199559247
NM_006204.4(PDE6C):c.939+4C>T rs371814026
NM_006204.4(PDE6C):c.939+9A>G rs886047482
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651

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