List of variants in gene NTHL1 reported as 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: 77

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00026
NM_002528.7(NTHL1):c.526-1G>A	rs779757251	0.00008
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	rs753029097	0.00004
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)	rs371328106	0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	rs919177150	0.00003
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	rs2084372140	0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	rs374489979	0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	rs1198246754	0.00001
NM_002528.7(NTHL1):c.685+1G>A	rs372946560	0.00001
NC_000016.10:g.(?_2043557)_(2044810_?)del
NC_000016.10:g.2047835G>A	rs1179131194
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)	rs1413587495
NM_002528.7(NTHL1):c.140del (p.Val47fs)
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)	rs1596223384
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)	rs2150947238
NM_002528.7(NTHL1):c.161dup (p.Arg55fs)	rs2150947218
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)	rs1290880136
NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)
NM_002528.7(NTHL1):c.172_175del (p.Val58fs)	rs2150947033
NM_002528.7(NTHL1):c.203del (p.Gly68fs)	rs1555492819
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.212del (p.Ala71fs)
NM_002528.7(NTHL1):c.216del (p.Glu72fs)
NM_002528.7(NTHL1):c.223A>T (p.Lys75Ter)
NM_002528.7(NTHL1):c.226del (p.Val76fs)
NM_002528.7(NTHL1):c.232del (p.Val78fs)	rs1314290585
NM_002528.7(NTHL1):c.237G>A (p.Trp79Ter)	rs2084374285
NM_002528.7(NTHL1):c.23_24del (p.Met8fs)
NM_002528.7(NTHL1):c.252G>A (p.Trp84Ter)
NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)	rs201671098
NM_002528.7(NTHL1):c.265dup (p.Val89fs)	rs2150945928
NM_002528.7(NTHL1):c.307dup (p.Asp103fs)	rs2150945390
NM_002528.7(NTHL1):c.332_333del (p.Cys110_Tyr111insTer)
NM_002528.7(NTHL1):c.341_350del (p.Ser114fs)
NM_002528.7(NTHL1):c.350del (p.Pro117fs)	rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs)	rs763525759
NM_002528.7(NTHL1):c.353dup (p.Val119fs)
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)	rs759955745
NM_002528.7(NTHL1):c.356del (p.Val119fs)
NM_002528.7(NTHL1):c.365_371del (p.Tyr122fs)
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)	rs371328106
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	rs1596220478
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)	rs758667255
NM_002528.7(NTHL1):c.418dup (p.Ala140fs)	rs2150942398
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
NM_002528.7(NTHL1):c.445dup (p.Arg149fs)	rs1596220365
NM_002528.7(NTHL1):c.449dup (p.Leu151fs)	rs2150942322
NM_002528.7(NTHL1):c.460del (p.Asp154fs)	rs1596220332
NM_002528.7(NTHL1):c.469del (p.Leu157fs)
NM_002528.7(NTHL1):c.510del (p.Val171fs)	rs1567369975
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.526-1G>T	rs779757251
NM_002528.7(NTHL1):c.547C>T (p.Gln183Ter)	rs1385660445
NM_002528.7(NTHL1):c.565del (p.Gln189fs)
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)	rs1455020789
NM_002528.7(NTHL1):c.599_600del (p.Val200fs)	rs2084299537
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	rs2150941243
NM_002528.7(NTHL1):c.650_653dup (p.Met218fs)	rs2084298057
NM_002528.7(NTHL1):c.659del (p.Val220fs)
NM_002528.7(NTHL1):c.664dup (p.Trp222fs)
NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter)	rs2084297946
NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)
NM_002528.7(NTHL1):c.675_676del (p.Ser226fs)	rs1567369247
NM_002528.7(NTHL1):c.694_695del (p.Thr232fs)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	rs2150938411
NM_002528.7(NTHL1):c.726del (p.Arg242fs)	rs2150938370
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter)	rs1184801355
NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)	rs879181418
NM_002528.7(NTHL1):c.752del (p.Pro251fs)
NM_002528.7(NTHL1):c.778G>T (p.Glu260Ter)
NM_002528.7(NTHL1):c.789dup (p.Arg264Ter)	rs2084241184
NM_002528.7(NTHL1):c.791+2T>C	rs2084241095
NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)
NM_002528.7(NTHL1):c.81dup (p.Pro28fs)
NM_002528.7(NTHL1):c.84del (p.Pro30fs)	rs2150957715

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