ClinVar Miner

List of variants in gene NTHL1 reported as likely benign by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.355-34G>A rs369651668 0.00061
NM_002528.7(NTHL1):c.355-37C>T rs3087466 0.00058
NM_002528.7(NTHL1):c.*30T>C rs371249070 0.00054
NM_002528.7(NTHL1):c.526-44G>C rs2233521 0.00048
NM_002528.7(NTHL1):c.116-16G>A rs145790217 0.00033
NM_002528.7(NTHL1):c.791+10T>G rs564181825 0.00019
NM_002528.7(NTHL1):c.115+24C>T rs758065714 0.00018
NM_002528.7(NTHL1):c.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.115+17G>A rs377258199 0.00010
NM_002528.7(NTHL1):c.115+10C>A rs756945300 0.00009
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 0.00009
NM_002528.7(NTHL1):c.685+17G>A rs553209172 0.00007
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=) rs541989951 0.00006
NM_002528.7(NTHL1):c.120G>A (p.Ala40=) rs143726834 0.00004
NM_002528.7(NTHL1):c.138C>T (p.Pro46=) rs752395301 0.00004
NM_002528.7(NTHL1):c.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) rs902599622 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.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.354+16_354+19dup rs761177500 0.00001
NM_002528.7(NTHL1):c.81G>A (p.Glu27=) rs1596227883 0.00001
NM_002528.7(NTHL1):c.*19C>T
NM_002528.7(NTHL1):c.*28G>T
NM_002528.7(NTHL1):c.*31G>A
NM_002528.7(NTHL1):c.115+10C>T rs756945300
NM_002528.7(NTHL1):c.115+6G>T
NM_002528.7(NTHL1):c.116-31C>A
NM_002528.7(NTHL1):c.309C>T (p.Asp103=) rs2150945346
NM_002528.7(NTHL1):c.354+33C>T
NM_002528.7(NTHL1):c.355-32C>T
NM_002528.7(NTHL1):c.525+22G>C
NM_002528.7(NTHL1):c.526-12_526-11del rs2150941472
NM_002528.7(NTHL1):c.526-36del
NM_002528.7(NTHL1):c.526-45G>A
NM_002528.7(NTHL1):c.685+33C>T
NM_002528.7(NTHL1):c.686-17G>A rs779450940
NM_002528.7(NTHL1):c.686-38G>C
NM_002528.7(NTHL1):c.791+35G>A
NM_002528.7(NTHL1):c.792-39C>T
NM_002528.7(NTHL1):c.792-3C>T rs3087467

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