ClinVar Miner

List of variants in gene POLG studied for Mitochondrial disease

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) rs779956099 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.1384T>C (p.Ser462Pro)
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3249_3256del (p.Glu1084fs)
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.3(POLG):c.3395G>A (p.Ser1132Asn)
NM_002693.3(POLG):c.3483-14T>C rs587781119
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3643+2T>C rs1335880349

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