List of variants in gene CCDC78 reported as benign for congenital myopathy with internal nuclei and atypical cores

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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: 30

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HGVS	dbSNP	gnomAD frequency
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg)	rs2071950	0.59279
NM_001378030.1(CCDC78):c.1302-53A>G	rs12599130	0.54951
NM_001378030.1(CCDC78):c.766-11G>A	rs4984921	0.47174
NM_001378030.1(CCDC78):c.180+19C>G	rs12446058	0.21130
NM_001378030.1(CCDC78):c.180+11G>T	rs12448312	0.19609
NM_001378030.1(CCDC78):c.180+12G>T	rs12448311	0.19608
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=)	rs8055909	0.03578
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=)	rs61998209	0.01878
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln)	rs142136104	0.00853
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met)	rs77707419	0.00503
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys)	rs61998220	0.00468
NM_001378030.1(CCDC78):c.267+11G>A	rs78103693	0.00338
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=)	rs73489339	0.00274
NM_001378030.1(CCDC78):c.781G>A (p.Ala261Thr)	rs186738044	0.00264
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)	rs148595483	0.00212
NM_001378030.1(CCDC78):c.953+10G>A	rs79863898	0.00195
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)	rs145274257	0.00159
NM_001378030.1(CCDC78):c.1098C>T (p.Pro366=)	rs140104512	0.00106
NM_001378030.1(CCDC78):c.1134-9C>T	rs199505710	0.00088
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser)	rs200747487	0.00048
NM_001378030.1(CCDC78):c.493-16C>T	rs200531006	0.00044
NM_001378030.1(CCDC78):c.1053+12G>A	rs368223759	0.00029
NM_001378030.1(CCDC78):c.1053+20G>A	rs200002179	0.00020
NM_001378030.1(CCDC78):c.766-9C>T	rs199893871	0.00017
NM_001378030.1(CCDC78):c.1056C>T (p.His352=)	rs371958189	0.00003
NM_001378030.1(CCDC78):c.1134-131del	rs35843452
NM_001378030.1(CCDC78):c.1134-160dup	rs548208034
NM_001378030.1(CCDC78):c.180+14C>T	rs747340016
NM_001378030.1(CCDC78):c.42C>G (p.Pro14=)	rs368628654
NM_001378030.1(CCDC78):c.953+15del	rs751454157

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