ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290

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