ClinVar Miner

List of variants studied for Leber congenital amaurosis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166 0.00045
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00013
NM_018418.5(SPATA7):c.373-15A>G rs781587897 0.00003
NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln) rs756856544 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys) rs1798694612
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) rs1798090540
NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr) rs1798086782
NM_003322.6(TULP1):c.1112+2T>G rs1761066725
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) rs551519696
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) rs1761224205
NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs) rs1836785797
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832

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