List of variants reported as likely pathogenic for Cerebroretinal microangiopathy with calcifications and cysts 1

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)	rs199473676	0.00026
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	rs199473678	0.00007
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)	rs761922947	0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs)	rs748852501	0.00002
NM_025099.6(CTC1):c.2758+1G>T	rs200609323	0.00002
NM_025099.6(CTC1):c.1818+1G>A	rs773716148	0.00001
NM_025099.6(CTC1):c.2386-1G>A	rs199861310	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs)	rs773120259
NM_025099.6(CTC1):c.131_134del (p.Asp44fs)	rs1250113146
NM_025099.6(CTC1):c.1A>C (p.Met1Leu)	rs779499831
NM_025099.6(CTC1):c.2176del (p.His726fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs)	rs745467709
NM_025099.6(CTC1):c.2831dup (p.His945fs)	rs199473677
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer)	rs1567599993
NM_025099.6(CTC1):c.2T>A (p.Met1Lys)	rs1299853886
NM_025099.6(CTC1):c.3221+1G>A	rs766644829
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)	rs768853291

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