ClinVar Miner

List of variants in gene MED12 studied for Cardiovascular phenotype

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 0.00003
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.701A>T (p.Asp234Val) rs927746681 0.00001
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200

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