List of variants in gene CCDC50 reported as benign for autosomal recessive 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_178335.3(CCDC50):c.50-4C>G	rs188384	0.65003
NM_178335.3(CCDC50):c.976+56A>G	rs293806	0.63457
NM_178335.3(CCDC50):c.1092+58C>T	rs293814	0.58227
NM_178335.3(CCDC50):c.1242+10G>A	rs211043	0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=)	rs364519	0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr)	rs293813	0.58148
NM_178335.3(CCDC50):c.651T>C (p.His217=)	rs2028572	0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn)	rs2028574	0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg)	rs4677728	0.49101
NM_178335.3(CCDC50):c.976+6A>G	rs4677729	0.49066
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr)	rs75123867	0.00089

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