ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.2606-7A>G rs757102395 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.1284T>C (p.Leu428=)
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=) rs768608195
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
NM_001018115.3(FANCD2):c.2695C>A (p.His899Asn) rs770051715
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
NM_001018115.3(FANCD2):c.570G>T (p.Lys190Asn)
NM_001018115.3(FANCD2):c.648T>G (p.Pro216=)
NM_001018115.3(FANCD2):c.695+696T>C
NM_001018115.3(FANCD2):c.790C>T (p.Gln264Ter) rs2086892010

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