ClinVar Miner

List of variants studied for retinal disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala) rs2152594696
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) rs2136539942
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) rs2136537559
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)

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