ClinVar Miner

List of variants reported as uncertain significance for cataract by Baylor Genetics

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) rs1224719314 0.00004
NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp) rs558484735 0.00003
NM_014290.3(TDRD7):c.2524T>C (p.Trp842Arg) rs1274740363 0.00002
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu) rs759834255 0.00001
NM_000496.3(CRYBB2):c.325A>T (p.Ile109Phe)
NM_001267052.2(UNC45B):c.2209G>T (p.Ala737Ser) rs572473522
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) rs794727936
NM_002340.6(LSS):c.1228T>C (p.Cys410Arg) rs2080101374
NM_002340.6(LSS):c.347G>A (p.Arg116His) rs146421852
NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys) rs2068949378
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His) rs767672961

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