ClinVar Miner

List of variants in gene CD2AP reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.42T>C (p.His14=) rs34773184 0.00472
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) rs34023453 0.00471
NM_012120.3(CD2AP):c.447C>T (p.Thr149=) rs145518596 0.00268
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_012120.3(CD2AP):c.636A>T (p.Arg212=) rs146010044 0.00039
NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser) rs372234258 0.00038
NM_012120.3(CD2AP):c.1812C>T (p.His604=) rs140391156 0.00021
NM_012120.3(CD2AP):c.1417+19C>T rs185609509 0.00015
NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile) rs143297472 0.00015
NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly) rs367952819 0.00012
NM_012120.3(CD2AP):c.1641G>A (p.Val547=) rs375173164 0.00011
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) rs142628238 0.00011
NM_012120.3(CD2AP):c.5-20G>A rs3756935 0.00010
NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser) rs138163915 0.00009
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.1633-8G>A rs371517849 0.00006
NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe) rs368150114 0.00004
NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn) rs149246024 0.00004
NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser) rs757507978 0.00004
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) rs758523796 0.00002
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012120.3(CD2AP):c.521A>C (p.His174Pro) rs762020246 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_012120.3(CD2AP):c.1275-11dup rs569215676
NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) rs1582617802
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) rs773479372
NM_012120.3(CD2AP):c.730-1_730delinsCT rs1554181304

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