ClinVar Miner

List of variants in gene CPAMD8 studied for anterior segment dysgenesis 8

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015692.5(CPAMD8):c.1916A>G (p.Gln639Arg) rs528939156 0.00004
NM_015692.5(CPAMD8):c.-55G>A
NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met) rs147345591
NM_015692.5(CPAMD8):c.1758+1_1758+4del
NM_015692.5(CPAMD8):c.1994C>T (p.Thr665Met)
NM_015692.5(CPAMD8):c.2066T>C (p.Phe689Ser)
NM_015692.5(CPAMD8):c.2070+1G>C rs374939930
NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs) rs756064750
NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro) rs1057519340
NM_015692.5(CPAMD8):c.4408-1G>A rs369858688

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