List of variants in gene CCDC88C reported as uncertain significance for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	rs200650758	0.00081
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)	rs201940261	0.00078
NM_001080414.4(CCDC88C):c.4768+6T>C	rs183312399	0.00068
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	rs201414940	0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)	rs200769097	0.00053
NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys)	rs767030060	0.00021
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)	rs372168003	0.00016
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)	rs587782989	0.00011
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)	rs548699524	0.00006
NM_001080414.4(CCDC88C):c.3358-5G>A	rs762398207	0.00002
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys)	rs761288523	0.00002
NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala)	rs1014956719	0.00001
NM_001080414.4(CCDC88C):c.161+5G>A	rs1887078001
NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu)	rs762288121
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg)	rs1407640264
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg)	rs1891200660

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