ClinVar Miner

List of variants in gene NTHL1 reported as uncertain significance by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) rs370228590 0.00010
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) rs755619109 0.00003
NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) rs1596227700
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) rs1397863507
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) rs149277519
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) rs766473490

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