List of variants in gene combination FANCI, POLG reported as uncertain significance for Fanconi anemia

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3644-72C>A	rs1801377	0.00354
NM_002693.3(POLG):c.3644-16T>C	rs536522307	0.00013
NM_002693.3(POLG):c.*122G>A	rs886051517	0.00009
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)	rs369058619	0.00007
NM_002693.3(POLG):c.3644-116T>C	rs777372106	0.00003
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser)	rs1357711884	0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)	rs754573704	0.00001
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val)	rs771174269	0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)	rs916916820	0.00001
NC_000015.9:g.(?_89790879)_(89859690_?)dup
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-84_3925-81dup	rs1444126104
NM_001113378.2(FANCI):c.3941A>C (p.His1314Pro)
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs)	rs2152049557
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)	rs1402252175
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)	rs916916820
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)	rs771578684
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn)	rs1159813655
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)	rs1245705221
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)	rs1411317487
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329=)	rs2509140530
NM_002693.3(POLG):c.3644-178_3644-176dup	rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)	rs144346886

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