ClinVar Miner

List of variants studied for achromatopsia by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_006204.4(PDE6C):c.1269+1G>A rs1554889905
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) rs1028838062
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) rs756324901
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181
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.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.497del (p.Asp166fs) rs1554888848
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521
NM_006204.4(PDE6C):c.78del (p.Lys27fs) rs1554888353
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.857del (p.Lys286fs) rs1554888978
NM_019098.4(CNGB3):c.1663-1205G>A
NM_019098.4(CNGB3):c.1663-2137C>T

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