ClinVar Miner

List of variants in gene CCDC65 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033124.5(CCDC65):c.398A>G (p.His133Arg) rs10747556 0.32513
NM_033124.5(CCDC65):c.933A>G (p.Arg311=) rs10875893 0.32404
NM_033124.5(CCDC65):c.1176C>A (p.Thr392=) rs10875894 0.32390
NM_033124.5(CCDC65):c.1223A>G (p.Tyr408Cys) rs4760600 0.32366
NM_033124.5(CCDC65):c.1026+8_1026+9del rs146370108 0.07733
NM_033124.5(CCDC65):c.880C>T (p.Arg294Cys) rs78877829 0.04426
NM_033124.5(CCDC65):c.505C>A (p.His169Asn) rs79716342 0.04408
NM_033124.5(CCDC65):c.1179+15A>T rs73107887 0.02696
NM_033124.5(CCDC65):c.1415G>A (p.Arg472His) rs80052257 0.02693
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr) rs117646559 0.00829
NM_033124.5(CCDC65):c.1429G>A (p.Gly477Ser) rs117927481 0.00609
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=) rs116473422 0.00510
NM_033124.5(CCDC65):c.1027-11G>A rs182441696 0.00161
NM_033124.5(CCDC65):c.1180-8A>C rs192209412 0.00144
NM_033124.5(CCDC65):c.132+11T>C rs201804778 0.00140
NM_033124.5(CCDC65):c.666G>A (p.Leu222=) rs148437989 0.00140
NM_033124.5(CCDC65):c.301-14T>C rs114216003 0.00120
NM_033124.5(CCDC65):c.375C>T (p.Asp125=) rs143088014 0.00106
NM_033124.5(CCDC65):c.660A>G (p.Glu220=) rs144573949 0.00015
NM_033124.5(CCDC65):c.747G>A (p.Val249=) rs201132346 0.00012
NM_033124.5(CCDC65):c.609+14G>A rs202100898 0.00001
NM_033124.5(CCDC65):c.1179+14del rs762661201

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