List of variants reported as pathogenic for TSPAN12-related vitreoretinopathy

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met)	rs538591733	0.00001
NM_012338.4(TSPAN12):c.301dup (p.Leu101fs)	rs1407226293	0.00001
NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg)	rs267607151	0.00001
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro)	rs200519776	0.00001
C181F
NM_012338.4(TSPAN12):c.11_14dup (p.Asp5fs)
NM_012338.4(TSPAN12):c.176_179del (p.Tyr59fs)	rs1278815943
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs)	rs1554403626
NM_012338.4(TSPAN12):c.285+1G>A	rs587777285
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His)	rs267607152
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter)	rs1437503069
NM_012338.4(TSPAN12):c.361-5_361-1del	rs794726655
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys)	rs587777283
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter)	rs267607153
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	rs878853243
NM_012338.4(TSPAN12):c.67-1G>C	rs587777284
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro)	rs267607154

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