ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005120.3(MED12):c.5301C>G (p.Pro1767=) rs1381304769 0.00005
NM_005120.3(MED12):c.2395C>T (p.Leu799=) rs1280842063 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.6465C>T (p.Val2155=) rs764620745 0.00003
NM_005120.3(MED12):c.5124C>A (p.Val1708=) rs775912778 0.00002
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354 0.00002
NM_005120.3(MED12):c.2169G>A (p.Gly723=) rs1060504497 0.00001
NM_005120.3(MED12):c.2937C>T (p.Tyr979=) rs758935114 0.00001
NM_005120.3(MED12):c.3849G>T (p.Leu1283=) rs377409217 0.00001
NM_005120.3(MED12):c.5862G>A (p.Gln1954=) rs1191896226 0.00001
NM_005120.3(MED12):c.1923C>G (p.Ala641=) rs754725206
NM_005120.3(MED12):c.2286G>A (p.Lys762=) rs1602297586
NM_005120.3(MED12):c.2670C>T (p.Ile890=) rs1602298322
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5754T>C (p.Ser1918=) rs1602305150

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