ClinVar Miner

List of variants studied for Fanconi anemia complementation group G by Genome-Nilou Lab

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_004629.2(FANCG):c.-19G>A rs762155734 0.00006
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) rs755919340 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994

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