List of variants in gene combination FANCI, POLG reported as uncertain significance for mitochondrial DNA depletion syndrome

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	rs199751339	0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)	rs750792237	0.00006
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro)	rs569063066	0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	rs148786642	0.00004
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala)	rs749355151	0.00004
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr)	rs779072487	0.00002
NM_002693.3(POLG):c.*30G>A	rs3087376	0.00001
NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly)	rs776506626	0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)	rs775517153	0.00001
NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg)	rs1024234712	0.00001
NC_000015.10:g.(?_89316731)_(89316847_?)del
NC_000015.9:g.(?_89859982)_(89876985_?)dup
NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys)
NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp)
NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly)
NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu)	rs148786642
NM_002693.3(POLG):c.3671T>A (p.Ile1224Asn)
NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser)	rs779072487
NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp)	rs371454241
NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)
NM_002693.3(POLG):c.3686G>T (p.Gly1229Val)
NM_002693.3(POLG):c.3691T>G (p.Leu1231Val)	rs941120370
NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)
NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn)
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)	rs144346886
NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter)	rs144346886
NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro)	rs750792237
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs)	rs2055280453
NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter)
NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu)	rs200788482
NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)
NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr)
NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu)
NM_002693.3(POLG):c.3716del (p.Pro1239fs)	rs1555452076
NM_002693.3(POLG):c.3720G>A (p.Ter1240=)	rs991823575
NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr)	rs991823575

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