ClinVar Miner

List of variants in gene C2CD3 studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001286577.2(C2CD3):c.4923A>G (p.Val1641=) rs4453265 0.46577
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_001286577.2(C2CD3):c.3650C>G (p.Ala1217Gly) rs144597224 0.00029
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys) rs139665472 0.00025
NM_001286577.2(C2CD3):c.3911-2A>T rs149366137 0.00016
NM_001286577.2(C2CD3):c.5882-332A>G rs200146492 0.00013
NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His) rs958229850 0.00011
NM_001286577.2(C2CD3):c.5495+4A>G rs375920052 0.00010
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) rs748668786 0.00005
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) rs587777653 0.00001
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter) rs750328756 0.00001
NM_001286577.2(C2CD3):c.1962+2T>A rs1565303622 0.00001
NM_001286577.2(C2CD3):c.6001del (p.Cys2001fs) rs1398494529 0.00001
NM_001286577.2(C2CD3):c.1048C>G (p.His350Asp)
NM_001286577.2(C2CD3):c.1365+1G>A rs1174615027
NM_001286577.2(C2CD3):c.1730G>A (p.Arg577His)
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro) rs138748539
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile) rs1956396903
NM_001286577.2(C2CD3):c.2704C>A (p.Pro902Thr) rs990276989
NM_001286577.2(C2CD3):c.2720A>G (p.Tyr907Cys)
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
NM_001286577.2(C2CD3):c.3085T>G (p.Cys1029Gly) rs587777654
NM_001286577.2(C2CD3):c.3182G>C (p.Arg1061Thr)
NM_001286577.2(C2CD3):c.3345-1G>A
NM_001286577.2(C2CD3):c.3910+55A>G rs1095424
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe) rs1955571784
NM_001286577.2(C2CD3):c.5090+5G>C rs1565237232
NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr) rs1591315135
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691

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