List of variants in gene CTC1 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
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: 7

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HGVS	dbSNP	gnomAD frequency
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	rs199473678	0.00007
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)	rs747887601	0.00001
NM_025099.6(CTC1):c.2385+2T>C	rs1597378045	0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)	rs373905859	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025099.6(CTC1):c.1805_1811dup (p.Ala605fs)	rs1555533840
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)	rs768853291

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