ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
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.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446
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.3012C>T (p.Ile1004=) rs775829185
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660
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.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5400+7G>A rs201254124
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.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.736-8A>C rs62609586
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264

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