List of variants reported as pathogenic by Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	rs202069201	0.00006
NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter)	rs1407313220
NM_000283.4(PDE6B):c.1060-1G>T	rs863223339
NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	rs863223338
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)	rs863223344
NM_001031710.3(KLHL7):c.249del (p.Phe83fs)	rs1583657698
NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)	rs2146412304
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	rs863223343
NM_001851.6(COL9A1):c.2644del (p.Val882fs)	rs2127544065
NM_006269.2(RP1):c.679T>G (p.Phe227Val)	rs863223340
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)	rs779007169
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	rs760866131
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	rs876661301
NM_201253.3(CRB1):c.1459dup (p.Ser487fs)	rs863223342
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	rs863223341

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