ClinVar Miner

List of variants in gene NTHL1 reported as likely benign by Sema4, Sema4

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
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.150G>A (p.Pro50=) rs545609149 0.00005
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.444G>A (p.Ala148=) rs145366761 0.00004
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) rs902599622 0.00004
NM_002528.7(NTHL1):c.273C>T (p.Ile91=) rs751900193 0.00003
NM_002528.7(NTHL1):c.813T>C (p.Asn271=) rs1057034087 0.00002
NM_002528.7(NTHL1):c.420G>A (p.Ala140=) rs768014084 0.00001
NM_002528.7(NTHL1):c.423C>T (p.Gly141=) rs774887697 0.00001
NM_002528.7(NTHL1):c.486C>T (p.Ala162=) rs201515357 0.00001
NM_002528.7(NTHL1):c.711C>T (p.Ile237=) rs751951515 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.135C>T (p.Ser45=) rs2150947604
NM_002528.7(NTHL1):c.189G>A (p.Ser63=) rs757957149
NM_002528.7(NTHL1):c.231A>G (p.Pro77=) rs754699488
NM_002528.7(NTHL1):c.264G>T (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) rs1216311147
NM_002528.7(NTHL1):c.39G>C (p.Arg13=) rs1282431142
NM_002528.7(NTHL1):c.603C>G (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.66G>A (p.Arg22=) rs755616986

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