ClinVar Miner

List of variants reported as benign for Progressive sclerosing poliodystrophy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002693.3(POLG):c.1713-32C>T rs3176190 0.06017
NM_002693.3(POLG):c.660-46G>A rs2307430 0.04873
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.1950-21C>T rs2307452 0.01987
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.3482+44G>A rs3176228 0.01216
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.1586-5del rs2307434 0.00891
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_002693.3(POLG):c.1713-31G>A rs3176191 0.00805
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1024-38C>T rs138069091 0.00549
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.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_002693.3(POLG):c.3644-14G>C rs3087375 0.00449
NM_002693.3(POLG):c.2735-15C>T rs41544115 0.00390
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00345
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_002693.3(POLG):c.1950-43A>G rs74596434 0.00178
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.2426+27G>A rs72762657 0.00157
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_002693.3(POLG):c.2982-30G>A rs76339822 0.00098
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2734+39_2734+40insAGGT rs2307433
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.659+11G>T rs3087379
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437

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