List of variants in gene NTHL1 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00026
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002528.7(NTHL1):c.791+1G>A	rs374616565	0.00002
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	rs374489979	0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs)	rs1173366565	0.00001
NM_002528.7(NTHL1):c.116-1G>A	rs1411394625
NM_002528.7(NTHL1):c.203del (p.Gly68fs)	rs1555492819
NM_002528.7(NTHL1):c.350del (p.Pro117fs)	rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs)	rs763525759
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	rs2150938411

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