ClinVar Miner

List of variants studied for Leber congenital amaurosis by Rui Chen Lab,Baylor College of Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_001080442.2(SLC38A8):c.388+5G>A rs760391436
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747

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