ClinVar Miner

List of variants in gene MED12 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5401-87T>C rs12852829 0.55167
NM_005120.3(MED12):c.6409-125T>C rs7056408 0.53788
NM_005120.3(MED12):c.5026-189G>C rs4844284 0.53371
NM_005120.2(MED12):c.-206A>G rs11796153 0.52390
NM_005120.3(MED12):c.1974+93G>C rs59024650 0.38224
NM_005120.3(MED12):c.554-83A>G rs4844282 0.36926
NM_005120.3(MED12):c.4120-85C>T rs6525471 0.33736
NM_005120.3(MED12):c.6491-58G>A rs36072155 0.25638
NM_005120.3(MED12):c.5026-249A>T rs12839587 0.24101
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.5025+156_5025+157del rs34862123 0.22808
NM_005120.3(MED12):c.4415+128A>G rs12843026 0.22390
NM_005120.3(MED12):c.3354+54G>A rs5030618 0.22251
NM_005120.3(MED12):c.2056-63G>T rs5030616 0.22108
NM_005120.3(MED12):c.2422+120T>G rs73214869 0.22003
NM_005120.3(MED12):c.1744+51A>G rs12841977 0.21935
NM_005120.3(MED12):c.205-38C>T rs12850852 0.21650
NM_005120.3(MED12):c.6408+53C>T rs7051453 0.15337
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.6409-114T>C rs3895088 0.14559
NM_005120.3(MED12):c.1102-136G>A rs4844283 0.13578
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_005120.3(MED12):c.4618-105C>A rs200721936 0.06659
NM_005120.2(MED12):c.-487G>A rs12840573 0.05151
NM_005120.3(MED12):c.4047+223A>G rs73539609 0.04396
NM_005120.3(MED12):c.1102-21T>C rs143664908 0.02931
NM_005120.3(MED12):c.204+58G>C rs144436978 0.02926
NM_005120.3(MED12):c.4864-54C>T rs12010687 0.02482
NM_005120.3(MED12):c.100-64A>G rs73634861 0.01914
NM_005120.3(MED12):c.554-21C>A rs150228870 0.01808
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01806
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.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.397-39G>A rs147633472 0.00186
NM_005120.3(MED12):c.3867+42G>A rs186731406 0.00184
NM_005120.3(MED12):c.4617+51G>A rs180686238 0.00163
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00116
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00091
NM_005120.3(MED12):c.2423-51C>G rs199675815 0.00088
NM_005120.3(MED12):c.6045-50C>T rs372061858 0.00080
NM_005120.3(MED12):c.2423-38T>C rs190258600 0.00049
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.2850-27C>T rs144560611 0.00046
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00039
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00023
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801 0.00019
NM_005120.3(MED12):c.4416-15T>C rs770290521 0.00018
NM_005120.3(MED12):c.3209+45A>T rs762212314 0.00017
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.4617+25A>G rs760499470 0.00011
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00006
NM_005120.3(MED12):c.3691+38A>G rs369769263 0.00006
NM_005120.3(MED12):c.5400+44C>G rs757133536 0.00006
NM_005120.3(MED12):c.846+37G>A rs762621629 0.00006
NM_005120.3(MED12):c.6491-40G>A rs780779497 0.00005
NM_005120.3(MED12):c.3691+4C>T rs373381746 0.00004
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3209+35C>T rs190123882 0.00003
NM_005120.3(MED12):c.4416-48T>C rs12849277 0.00003
NM_005120.3(MED12):c.6490+52C>T rs369098007 0.00003
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00002
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.3306C>T (p.Ser1102=) rs2147802558
NM_005120.3(MED12):c.4416-77CTCTT[11] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[15] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[6] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[7] rs56658066
NM_005120.3(MED12):c.4618-106del rs35646519
NM_005120.3(MED12):c.4618-106dup rs35646519
NM_005120.3(MED12):c.553+302C>G rs62609584
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6409-71dup rs371432455
NM_005120.3(MED12):c.736-53_736-40dup rs71951253

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