List of variants in gene NTHL1 reported as likely pathogenic by Sema4, Sema4

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: 8

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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.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.234dup (p.Trp79fs)	rs2150946400
NM_002528.7(NTHL1):c.239del (p.Glu80fs)	rs2150946310
NM_002528.7(NTHL1):c.241_242insT (p.Pro81fs)	rs2150946263
NM_002528.7(NTHL1):c.247del (p.Asp83fs)	rs2150946170
NM_002528.7(NTHL1):c.354+1G>A	rs1377633383

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