ClinVar Miner

List of variants reported for Cerebroretinal microangiopathy with calcifications and cysts 1 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799

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