ClinVar Miner

List of variants in gene POLG reported by Genetic Services Laboratory, University of Chicago

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Total variants: 29
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HGVS dbSNP
NM_002693.2(POLG):c.1235C>T (p.Pro412Leu) rs587780420
NM_002693.2(POLG):c.126_128GCA[10] (p.Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2869G>C (p.Ala957Pro) rs121918051
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3293A>C (p.Asn1098Thr) rs587780421
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437

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