List of variants in gene FANCI, POLG studied for Fanconi anemia complementation group I

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3643+257T>G	rs1061316	0.48343
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	rs1138465	0.41848
NM_002693.3(POLG):c.3643+258A>G	rs1860021	0.10541
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	rs3087374	0.06023
NM_001113378.2(FANCI):c.3816+15A>T	rs28493988	0.02379
NM_002693.3(POLG):c.3644-99C>T	rs3176241	0.01180
NM_002693.3(POLG):c.3644-9A>G	rs115048121	0.00785
NM_002693.3(POLG):c.3644-72C>A	rs1801377	0.00354
NM_002693.3(POLG):c.3644-184T>C	rs115758754	0.00156
NM_002693.3(POLG):c.*63A>G	rs552236933	0.00059
NM_002693.3(POLG):c.3644-16T>C	rs536522307	0.00013
NM_002693.3(POLG):c.*100G>A	rs770839560	0.00011
NM_002693.3(POLG):c.*122G>A	rs886051517	0.00009
NM_002693.3(POLG):c.*44G>C	rs563185483	0.00009
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)	rs369058619	0.00007
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.3644-116T>C	rs777372106	0.00003
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)	rs754573704	0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)	rs916916820	0.00001
NM_002693.3(POLG):c.*30G>A	rs3087376	0.00001
NM_001113378.2(FANCI):c.*614T>G	rs886051521
NM_001113378.2(FANCI):c.*662C>G	rs560246181
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del)	rs2055264556
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)	rs1275616370
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)	rs1402252175
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)	rs771578684
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)	rs1411317487
NM_002693.3(POLG):c.*49G>A	rs758880377
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)	rs144346886

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