ClinVar Miner

List of variants studied for achromatopsia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696

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