List of variants in gene CTC1 reported as pathogenic for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)	rs199473676	0.00026
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	rs199473678	0.00007
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)	rs202138550	0.00006
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)	rs952398755	0.00002
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter)	rs760884555	0.00001
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)	rs199473682	0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)	rs1169567839	0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)	rs397514660	0.00001
NM_025099.6(CTC1):c.1245del (p.Thr416fs)	rs1567609103
NM_025099.6(CTC1):c.2831del (p.Pro944fs)	rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs)	rs199473677
NM_025099.6(CTC1):c.2847_2850del (p.Val948_Tyr949insTer)	rs2151503678
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)	rs199473679
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)	rs199473680
NM_025099.6(CTC1):c.3358C>T (p.Gln1120Ter)	rs1986946690
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)	rs199473674

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