ClinVar Miner

List of variants in gene FANCI, POLG studied for anemia (disease)

Included ClinVar conditions (262):
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Total variants: 27
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HGVS dbSNP
NC_000015.9:g.(?_89790860)_(89860362_?)del
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.3925-84_3925-81dup rs1444126104
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_001113378.1(FANCI):c.3965C>T (p.Ala1322Val)
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met)
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.*63A>G rs552236933
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.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.2(POLG):c.3644-246A>C rs886051521
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374

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