ClinVar Miner

List of variants studied for Retinal dystrophy by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_015629.4(PRPF31):c.1073+5G>A rs759589041 0.00018
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) rs376246791 0.00001
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) rs769742202 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000717.5(CA4):c.686G>A (p.Cys229Tyr) rs759956725
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006343.3(MERTK):c.2060G>T (p.Arg687Leu) rs775443181

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