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: 44
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HGVS dbSNP
NC_000023.11:g.71118268G>A rs12840573
NC_000023.11:g.71118549A>G rs11796153
NM_005120.3(MED12):c.1101+18C>T rs200510424
NM_005120.3(MED12):c.1102-136G>A rs4844283
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1485+96A>G rs7053139
NM_005120.3(MED12):c.1744+51A>G rs12841977
NM_005120.3(MED12):c.1974+93G>C rs59024650
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.205-38C>T rs12850852
NM_005120.3(MED12):c.2056-63G>T rs5030616
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2422+120T>G rs73214869
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.2981+13G>A rs73214870
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3354+54G>A rs5030618
NM_005120.3(MED12):c.3691+4C>T rs373381746
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660
NM_005120.3(MED12):c.397-12A>T rs192515277
NM_005120.3(MED12):c.4047+223A>G rs73539609
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4415+128A>G rs12843026
NM_005120.3(MED12):c.4415+29T>C rs10521349
NM_005120.3(MED12):c.4416-77CTCTT[11] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[6] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[7] rs56658066
NM_005120.3(MED12):c.5025+156_5025+157del rs34862123
NM_005120.3(MED12):c.5026-189G>C rs4844284
NM_005120.3(MED12):c.5026-249A>T rs12839587
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5401-87T>C rs12852829
NM_005120.3(MED12):c.553+302C>G rs62609584
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.554-83A>G rs4844282
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5748+16G>T rs199760183
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6409-114T>C rs3895088
NM_005120.3(MED12):c.6409-125T>C rs7056408
NM_005120.3(MED12):c.6491-58G>A rs36072155

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