ClinVar Miner

List of variants reported as likely benign for cone-rod dystrophy 10

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) rs41265019 0.01581
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00399
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln) rs137997761 0.00088
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_022367.4(SEMA4A):c.426C>T (p.Cys142=) rs371685429 0.00019

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