ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00063
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr) rs1331610447 0.00002
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser) rs1290248528 0.00002
NM_001102564.3(IFT43):c.296-5697G>A rs756700836 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp) rs879253769 0.00001
NM_000326.5(RLBP1):c.-223-1G>A rs1032783403
NM_000330.4(RS1):c.52+3A>G rs2147209764
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser) rs2148415249
NM_144499.3(GNAT1):c.450-11G>T rs2109139018
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser) rs2125485150

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