ClinVar Miner

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

Included ClinVar conditions (3):
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Gene type:
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Total variants: 25
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HGVS dbSNP
NC_000015.10:g.(?_89247629)_(89317131_?)del
NG_008218.2:g.22677T>G rs1061316
NG_008218.2:g.22678A>G rs1860021
NG_008218.2:g.22853T>C rs777372106
NG_008218.2:g.22870C>T rs3176241
NG_008218.2:g.23025C>G rs144346886
NG_008218.2:g.23094G>A rs758880377
NG_008218.2:g.23108A>G rs552236933
NG_008218.2:g.23167G>A rs886051517
NM_001113378.1(FANCI):c.*244dupC rs3087377
NM_001113378.1(FANCI):c.*384A>G rs536522307
NM_001113378.1(FANCI):c.*440G>T rs1801377
NM_001113378.1(FANCI):c.*545_*547dupCTT rs1555452148
NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.3925-4C>T rs765962856
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_002693.2(POLG):c.*438_*441dupATCT rs1444126104
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374

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