ClinVar Miner

List of variants in gene CCDC78 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 33
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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.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.953+10G>A rs79863898 0.00195
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) rs142170929 0.00154
NM_001378030.1(CCDC78):c.1134-9C>T rs199505710 0.00088
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=) rs146067716 0.00088
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln) rs151206197 0.00087
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met) rs140761899 0.00052
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.268-3C>T rs371386354 0.00016
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) rs760280521 0.00014
NM_001378030.1(CCDC78):c.668G>A (p.Arg223His) rs373278585 0.00010
NM_001378030.1(CCDC78):c.1133+7G>A rs374450678 0.00004
NM_001378030.1(CCDC78):c.1323G>A (p.Arg441=) rs146983005 0.00003
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.304C>T (p.Leu102=) rs886038379 0.00001
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val) rs562625664 0.00001
NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro)
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT rs373524109
NM_001378030.1(CCDC78):c.436-8C>T
NM_001378030.1(CCDC78):c.477C>T (p.His159=)
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)
NM_001378030.1(CCDC78):c.954-8C>A

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