ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as uncertain significance for not provided

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
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.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1921C>T (p.His641Tyr) rs765128164 0.00001
NM_001018115.3(FANCD2):c.2606-7A>G rs757102395 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.1166A>G (p.Tyr389Cys) rs2087019381
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1436C>T (p.Thr479Ile) rs1346254097
NM_001018115.3(FANCD2):c.1936C>G (p.Pro646Ala)
NM_001018115.3(FANCD2):c.1947+11T>C rs1228654611
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2549T>C (p.Ile850Thr)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2623G>T (p.Asp875Tyr) rs2125048443
NM_001018115.3(FANCD2):c.2695C>A (p.His899Asn) rs770051715
NM_001018115.3(FANCD2):c.274-12A>G
NM_001018115.3(FANCD2):c.2969T>G (p.Phe990Cys) rs2125054753
NM_001018115.3(FANCD2):c.356_361del (p.Arg119_Leu120del) rs1559370629
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.413T>C (p.Leu138Pro) rs1174325302
NM_001018115.3(FANCD2):c.570G>T (p.Lys190Asn)
NM_001018115.3(FANCD2):c.985G>C (p.Ala329Pro) rs765666007

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