ClinVar Miner

List of variants in gene MED12 studied for Cardiovascular phenotype

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Total variants: 64
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HGVS dbSNP
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1290G>A (p.Glu430=) rs1556334791
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.2982C>T (p.Ser994=) rs886039139
NM_005120.3(MED12):c.2990G>A (p.Cys997Tyr) rs1556336381
NM_005120.3(MED12):c.3009C>A (p.Thr1003=) rs375493995
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943
NM_005120.3(MED12):c.3443G>T (p.Arg1148Leu) rs387907360
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.3(MED12):c.3948G>A (p.Gln1316=) rs1359267668
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4253+4G>A rs750162341
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.4650C>T (p.Ser1550=) rs886039075
NM_005120.3(MED12):c.4725C>A (p.Asn1575Lys) rs1556338296
NM_005120.3(MED12):c.4870T>G (p.Leu1624Val) rs766406937
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918
NM_005120.3(MED12):c.5442G>C (p.Val1814=) rs773540568
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.5779G>A (p.Val1927Ile) rs1556339193
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.3(MED12):c.6168A>G (p.Gln2056=) rs745565325
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6268-4A>G rs780580344
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.3(MED12):c.6288_6290GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.3(MED12):c.701A>T (p.Asp234Val) rs927746681
NM_005120.3(MED12):c.872C>A (p.Ala291Glu) rs754533515
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264

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