List of variants reported as likely pathogenic for Progressive sclerosing poliodystrophy by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 74

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	rs181860632	0.00010
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	rs753416225	0.00006
NM_002693.3(POLG):c.3104+1G>A	rs138917386	0.00005
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)	rs556925652	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)	rs774610098	0.00001
NM_002693.3(POLG):c.1433+2T>C	rs920850257	0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	rs764287987	0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)	rs765916932	0.00001
NM_002693.3(POLG):c.3104+2T>A	rs747632869	0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	rs140079523	0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	rs761649878	0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	rs56047213	0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	rs776031396	0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	rs781256643	0.00001
NM_002693.3(POLG):c.1024-1G>C	rs1567192203
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
NM_002693.3(POLG):c.1575_1578del (p.Met525fs)	rs1253517114
NM_002693.3(POLG):c.1586-1G>A	rs2055524549
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)	rs774768199
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)
NM_002693.3(POLG):c.1712+2T>G
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	rs2055625602
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.1818del (p.Trp607fs)	rs2055505065
NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs)	rs796052919
NM_002693.3(POLG):c.2480+2T>C
NM_002693.3(POLG):c.2515del (p.Ala839fs)	rs1596352895
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	rs1356604153
NM_002693.3(POLG):c.2858G>A (p.Arg953His)	rs1567186581
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs)	rs1252078081
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.2981+2T>G	rs775260762
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	rs1064794213
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	rs201732356
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)	rs2152058760
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)	rs1064793800
NM_002693.3(POLG):c.3483-7_3509del
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)	rs1596348547
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.3539dup (p.Ser1181fs)
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
NM_002693.3(POLG):c.3568del (p.Arg1190fs)	rs1596348470
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	rs1596348443
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	rs886043241
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.659+1G>C
NM_002693.3(POLG):c.740del (p.Leu247fs)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605
NM_002693.3(POLG):c.855+1G>C
NM_002693.3(POLG):c.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.934_935del (p.Trp312fs)

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