List of variants in gene NTHL1 reported as likely benign 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: 36

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.116-37T>C	rs3211968	0.00990
NM_002528.7(NTHL1):c.355-277G>A	rs3211975	0.00484
NM_002528.7(NTHL1):c.686-99G>A	rs115635561	0.00468
NM_002528.7(NTHL1):c.685+123A>G	rs114873327	0.00465
NM_002528.7(NTHL1):c.116-10C>G	rs3211970	0.00366
NM_002528.7(NTHL1):c.526-11_526-10del	rs764393572	0.00011
NM_002528.7(NTHL1):c.489G>A (p.Thr163=)	rs760491144	0.00008
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=)	rs541989951	0.00006
NM_002528.7(NTHL1):c.831C>T (p.Phe277=)	rs376251044	0.00006
NM_002528.7(NTHL1):c.285G>A (p.Arg95=)	rs141911108	0.00005
NM_002528.7(NTHL1):c.120G>A (p.Ala40=)	rs143726834	0.00004
NM_002528.7(NTHL1):c.222C>G (p.Leu74=)	rs778667153	0.00004
NM_002528.7(NTHL1):c.348C>A (p.Pro116=)	rs145185932	0.00004
NM_002528.7(NTHL1):c.354+4G>T	rs771353497	0.00004
NM_002528.7(NTHL1):c.444G>A (p.Ala148=)	rs145366761	0.00004
NM_002528.7(NTHL1):c.483T>C (p.Asp161=)	rs112724577	0.00004
NM_002528.7(NTHL1):c.897G>A (p.Pro299=)	rs773331581	0.00004
NM_002528.7(NTHL1):c.9C>T (p.Ala3=)	rs765855021	0.00004
NM_002528.7(NTHL1):c.273C>T (p.Ile91=)	rs751900193	0.00003
NM_002528.7(NTHL1):c.345C>T (p.Ala115=)	rs781125710	0.00003
NM_002528.7(NTHL1):c.510C>T (p.Pro170=)	rs201980301	0.00003
NM_002528.7(NTHL1):c.115+6G>A	rs1036098566	0.00002
NM_002528.7(NTHL1):c.615G>A (p.Ala205=)	rs779702263	0.00002
NM_002528.7(NTHL1):c.420G>A (p.Ala140=)	rs768014084	0.00001
NM_002528.7(NTHL1):c.486C>T (p.Ala162=)	rs201515357	0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=)	rs745383145	0.00001
NM_002528.7(NTHL1):c.843C>A (p.Thr281=)	rs779198160	0.00001
NM_002528.7(NTHL1):c.870C>T (p.His290=)	rs751057369	0.00001
NM_002528.7(NTHL1):c.900C>T (p.Ala300=)	rs569494714	0.00001
NM_002528.7(NTHL1):c.*6G>T	rs749620192
NM_002528.7(NTHL1):c.115+4G>A	rs780886475
NM_002528.7(NTHL1):c.354+30dup	rs3211971
NM_002528.7(NTHL1):c.36C>T (p.Ser12=)	rs1216311147
NM_002528.7(NTHL1):c.516T>G (p.Gly172=)	rs1555492398
NM_002528.7(NTHL1):c.525+131C>T	rs2233520
NM_002528.7(NTHL1):c.96G>C (p.Arg32=)	rs1596227764

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