ClinVar Miner

List of variants in gene C2CD3 reported as likely pathogenic for not provided

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001286577.2(C2CD3):c.1217+1G>A rs777494204 0.00003
NM_001286577.2(C2CD3):c.708-2_708-1del rs769076549 0.00002
NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399 0.00001
NC_000011.9:g.(?_73801838)_(73802001_?)dup
NC_000011.9:g.(?_73872424)_(73872621_?)dup
NM_001286577.2(C2CD3):c.128T>G (p.Leu43Arg) rs774746175
NM_001286577.2(C2CD3):c.1365+1G>A rs1174615027
NM_001286577.2(C2CD3):c.1520+1G>C rs758396296
NM_001286577.2(C2CD3):c.1844-1G>T
NM_001286577.2(C2CD3):c.2086-1G>C
NM_001286577.2(C2CD3):c.5496-2A>G rs1953100514
NM_001286577.2(C2CD3):c.56-1G>C
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691

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