ClinVar Miner

List of variants in gene combination FANCI, POLG reported by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3643+180G>A rs3176238 0.48246
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_002693.3(POLG):c.3643+25A>G rs74842339 0.00728
NM_002693.3(POLG):c.3644-14G>C rs3087375 0.00449
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00029
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00013
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) rs779072487 0.00002
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) rs775517153 0.00001
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.3673dup (p.Glu1225fs) rs1567183122
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886

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