ClinVar Miner

List of variants reported as pathogenic for achromatopsia by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met) rs104893619
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu) rs104893617
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) rs104893615
NM_001079878.2(CNGA3):c.67C>T (p.Arg23Ter) rs777509481
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.880_882ATC[2] (p.Ile296del)
NM_001079878.2(CNGA3):c.931G>T (p.Gly311Cys) rs1558820134
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.105_114del (p.Gln36fs)
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1207C>T (p.Arg403Ter)
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.2328del (p.Arg777fs)
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.819del (p.Arg274fs)

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