ClinVar Miner

List of variants reported as benign for Fanconi anemia complementation group I by Illumina Laboratory Services, Illumina

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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.1698+15C>T rs9806604 0.46880
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001

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