List of variants in gene POLG reported as pathogenic for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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)

Total variants: 13

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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)	rs113994094	0.00151
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)	rs139717885	0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	rs121918046	0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_002693.3(POLG):c.2515del (p.Ala839fs)	rs1596352895
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	rs121918048
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.3630C>A (p.Tyr1210Ter)	rs139562274

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