List of variants in gene POLG reported as pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
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.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	rs139590686	0.00008
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_002693.3(POLG):c.1433+1G>A	rs771623994	0.00004
NM_002693.3(POLG):c.3104+3A>T	rs778573169	0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	rs267606959	0.00002
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	rs121918046	0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	rs1254855971	0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)	rs121918050	0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)	rs121918051	0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)	rs142347031	0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	rs1131691575	0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	rs769410130	0.00001
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)	rs1567191417
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	rs2055531147
NM_002693.3(POLG):c.1491G>C (p.Gln497His)	rs121918052
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn)	rs121918055
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)	rs139717885
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)	rs867038717
NM_002693.3(POLG):c.2515del (p.Ala839fs)	rs1596352895
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)	rs751376824
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala)	rs1567186779
NM_002693.3(POLG):c.2674dup (p.Asp892fs)	rs1283198587
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	rs121918048
NM_002693.3(POLG):c.2863T>C (p.Tyr955His)
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)	rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	rs121918051
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	rs1596348443
NM_002693.3(POLG):c.3643+2T>C	rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	rs886041592

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