ClinVar Miner

List of variants in gene FANCI, POLG studied for anemia

Included ClinVar conditions (292):
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Gene type:
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Total variants: 71
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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.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
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 0.00312
NM_002693.3(POLG):c.3644-184T>C rs115758754 0.00173
NM_001113378.2(FANCI):c.3925-14C>G rs148365638 0.00124
NM_002693.3(POLG):c.*63A>G rs552236933 0.00061
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165 0.00032
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
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.3925-4C>T rs765962856 0.00002
NM_001113378.2(FANCI):c.3925-10C>G rs1308242761 0.00001
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.3954C>T (p.Asn1318=) rs778130460 0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) rs916916820 0.00001
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000015.9:g.(?_89790873)_(89876991_?)del
NC_000015.9:g.(?_89790879)_(89859690_?)dup
NC_000015.9:g.(?_89828307)_(89876985_?)del
NC_000015.9:g.(?_89843021)_(89860052_?)del
NC_000015.9:g.(?_89858493)_(89860078_?)del
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-11del
NM_001113378.2(FANCI):c.3925-13_3925-10dup
NM_001113378.2(FANCI):c.3925-14C>A
NM_001113378.2(FANCI):c.3925-14C>T
NM_001113378.2(FANCI):c.3925-15_3925-11dup
NM_001113378.2(FANCI):c.3925-17A>C
NM_001113378.2(FANCI):c.3925-17A>G rs1164805902
NM_001113378.2(FANCI):c.3925-5T>C
NM_001113378.2(FANCI):c.3925-6T>G
NM_001113378.2(FANCI):c.3925-7C>T rs1389176310
NM_001113378.2(FANCI):c.3925-7del
NM_001113378.2(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.2(FANCI):c.3925-9C>T rs750218626
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.3939G>A (p.Glu1313=)
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=) rs1443770274
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs) rs2152049557
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val) rs771174269
NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg) rs1402252175
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
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.3984A>G (p.Lys1328=)
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329=)
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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