ClinVar Miner

List of variants in gene MED12 reported as benign for FG syndrome 1

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066

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