List of variants in gene NTHL1 reported as likely pathogenic by Invitae

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002528.7(NTHL1):c.795del (p.Glu265fs)	rs1173366565	0.00001
NC_000016.9:g.(?_2089925)_(2090249_?)del
NC_000016.9:g.(?_2089925)_(2093737_?)del
NC_000016.9:g.(?_2093854)_(2096278_?)del
NM_002528.7(NTHL1):c.116-13_172del	rs2150947077
NM_002528.7(NTHL1):c.116-1G>A	rs1411394625
NM_002528.7(NTHL1):c.116-1_116delinsCT	rs2084387940
NM_002528.7(NTHL1):c.116-2A>C
NM_002528.7(NTHL1):c.116-2A>G
NM_002528.7(NTHL1):c.354+1G>A	rs1377633383
NM_002528.7(NTHL1):c.354+2T>C	rs1239874051
NM_002528.7(NTHL1):c.525+1G>A	rs1596220242
NM_002528.7(NTHL1):c.525+2T>G	rs2150942179
NM_002528.7(NTHL1):c.686-2A>G	rs2150938461
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)

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