ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as likely pathogenic by Invitae

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.889-2A>G

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