List of variants in gene C2CD3 reported as likely pathogenic for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001286577.2(C2CD3):c.3911-2A>T	rs149366137	0.00016
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.1730G>A (p.Arg577His)
NM_001286577.2(C2CD3):c.2720A>G (p.Tyr907Cys)
NM_001286577.2(C2CD3):c.2733_2740delAGATGCTA (p.Ala913fs)
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
NM_001286577.2(C2CD3):c.2_9del (p.Met1fs)
NM_001286577.2(C2CD3):c.3345-1G>A
NM_001286577.2(C2CD3):c.5600dup (p.Cys1867fs)
NM_001286577.2(C2CD3):c.994dup (p.Val332fs)	rs750700691

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