ClinVar Miner

List of variants in gene combination POLG, POLGARF reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.398A>G (p.Asp133Gly) rs540905618 0.00008
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.547G>C (p.Glu183Gln) rs762582785 0.00002
NM_002693.3(POLG):c.425T>C (p.Leu142Pro) rs1064797202 0.00001
NM_002693.3(POLG):c.603C>T (p.Val201=) rs768005050 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.3(POLG):c.91C>T (p.Pro31Ser) rs1310226901 0.00001
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del) rs41550117
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.381G>T (p.Leu127=) rs1057524724
NM_002693.3(POLG):c.401A>G (p.Asn134Ser) rs765542094
NM_002693.3(POLG):c.490C>A (p.Pro164Thr)
NM_002693.3(POLG):c.518A>G (p.Glu173Gly)
NM_002693.3(POLG):c.539C>T (p.Pro180Leu) rs1243945619
NM_002693.3(POLG):c.627C>T (p.Pro209=)
NM_002693.3(POLG):c.653C>A (p.Ser218Ter) rs1060500775

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