ClinVar Miner

List of variants in gene POLG reported as pathogenic by Invitae

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Total variants: 20
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HGVS dbSNP
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1433+1G>A rs771623994
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.2(POLG):c.2420G>A (p.Arg807His) rs796052887
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.3087_3088GA[2] (p.Glu1031fs) rs1555452607
NM_002693.2(POLG):c.3155dup (p.Thr1053fs) rs1447799185
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu) rs267606959
NM_002693.2(POLG):c.3255dup (p.Ser1086fs)
NM_002693.2(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002693.2(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575
NM_002693.2(POLG):c.646del (p.Ser216fs) rs1567193844
NM_002693.2(POLG):c.660G>A (p.Trp220Ter)
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605

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