ClinVar Miner

List of variants in gene C2CD3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001286577.2(C2CD3):c.6122C>T (p.Ala2041Val) rs145765035 0.00696
NM_001286577.2(C2CD3):c.3671A>G (p.Gln1224Arg) rs78878933 0.00557
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) rs140307393 0.00525
NM_001286577.2(C2CD3):c.2659G>A (p.Val887Met) rs117535770 0.00466
NM_001286577.2(C2CD3):c.6984G>T (p.Ser2328=) rs61733219 0.00439
NM_001286577.2(C2CD3):c.1113G>A (p.Arg371=) rs61741635 0.00398
NM_001286577.2(C2CD3):c.5082G>T (p.Gln1694His) rs142214951 0.00391
NM_001286577.2(C2CD3):c.3813G>A (p.Leu1271=) rs112581232 0.00381
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_001286577.2(C2CD3):c.5653T>C (p.Ser1885Pro) rs142277857 0.00270
NM_001286577.2(C2CD3):c.6237G>A (p.Thr2079=) rs192323211 0.00190
NM_001286577.2(C2CD3):c.520G>A (p.Asp174Asn) rs151308158 0.00187
NM_001286577.2(C2CD3):c.6487G>T (p.Val2163Phe) rs550167325 0.00080
NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser) rs199993353 0.00035
NM_001286577.2(C2CD3):c.283G>A (p.Ala95Thr) rs756745599 0.00002
NM_001286577.2(C2CD3):c.1201del (p.Gln401fs)
NM_001286577.2(C2CD3):c.1217+7A>T rs771594582
NM_001286577.2(C2CD3):c.291T>A (p.Arg97=)
NM_001286577.2(C2CD3):c.3285T>G (p.Ser1095Arg)
NM_001286577.2(C2CD3):c.3541T>C (p.Tyr1181His)
NM_001286577.2(C2CD3):c.5128C>T (p.Leu1710=)

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