ClinVar Miner

List of variants reported as likely pathogenic for Progressive sclerosing poliodystrophy

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Total variants: 43
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HGVS dbSNP
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1418T>C (p.Leu473Pro)
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1789C>G (p.Arg597Gly)
NM_002693.2(POLG):c.1862G>A (p.Gly621Asp)
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2262C>G (p.His754Gln)
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.248T>C (p.Leu83Pro)
NM_002693.2(POLG):c.2555G>A (p.Arg852His)
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile)
NM_002693.2(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.2(POLG):c.2589C>G (p.Ser863Arg)
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.2657T>C (p.Leu886Pro)
NM_002693.2(POLG):c.2698G>A (p.Ala900Thr)
NM_002693.2(POLG):c.2799T>G (p.Ser933Arg) rs765916932
NM_002693.2(POLG):c.2854G>A (p.Gly952Ser)
NM_002693.2(POLG):c.2858G>A (p.Arg953His)
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)
NM_002693.2(POLG):c.3229T>G (p.Cys1077Gly)
NM_002693.2(POLG):c.3240_3242dupCCG (p.Arg1081_Ala1082insArg) rs1064794213
NM_002693.2(POLG):c.3242G>C (p.Arg1081Pro)
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3338T>C (p.Leu1113Pro)
NM_002693.2(POLG):c.3383G>A (p.Arg1128His)
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3470A>G (p.Asn1157Ser) rs548076633
NM_002693.2(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.2(POLG):c.3526T>C (p.Ser1176Pro)
NM_002693.2(POLG):c.3562T>C (p.Cys1188Arg)
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala)
NM_002693.2(POLG):c.470T>C (p.Leu157Pro)
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.955A>G (p.Lys319Glu)
NM_002693.2:c.2391_2393del

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