List of variants in gene CCDC88C reported as likely pathogenic for not provided

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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: 15

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HGVS	dbSNP	gnomAD frequency
NC_000014.8:g.(?_91760517)_(91846247_?)dup
NM_001080414.4(CCDC88C):c.1051-2A>G
NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter)	rs1064796464
NM_001080414.4(CCDC88C):c.161+1G>A
NM_001080414.4(CCDC88C):c.3196-1G>A
NM_001080414.4(CCDC88C):c.3636-2A>C
NM_001080414.4(CCDC88C):c.3779+1G>A
NM_001080414.4(CCDC88C):c.3967-1G>C
NM_001080414.4(CCDC88C):c.4112+1G>A
NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile)	rs786205489
NM_001080414.4(CCDC88C):c.4442-2A>C
NM_001080414.4(CCDC88C):c.4442-2A>G
NM_001080414.4(CCDC88C):c.4583_4630+11del
NM_001080414.4(CCDC88C):c.4768+1G>A
NM_001080414.4(CCDC88C):c.810-1G>A

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