ClinVar Miner

List of variants in gene MED12 reported as association

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Total variants: 28
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HGVS dbSNP
NM_005120.3(MED12):c.100-1_139del rs199469676
NM_005120.3(MED12):c.100-8T>A rs199469675
NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del) rs199469677
NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del) rs199469678
NM_005120.3(MED12):c.107T>G (p.Leu36Arg) rs199469667
NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg) rs199469679
NM_005120.3(MED12):c.111_155del (p.Ala38_Ser52del) rs199469681
NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del) rs199469682
NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del) rs199469683
NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del) rs199469684
NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr) rs199469680
NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe) rs199469685
NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del) rs199469686
NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del) rs199469687
NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del) rs199469688
NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn) rs199469689
NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del) rs199469690
NM_005120.3(MED12):c.128A>C (p.Gln43Pro) rs199469668
NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis) rs199469691
NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del) rs199469692
NM_005120.3(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005120.3(MED12):c.130G>C (p.Gly44Arg) rs199469669
NM_005120.3(MED12):c.130G>T (p.Gly44Cys) rs199469669
NM_005120.3(MED12):c.131G>A (p.Gly44Asp) rs199469672
NM_005120.3(MED12):c.131G>C (p.Gly44Ala) rs199469672
NM_005120.3(MED12):c.131G>T (p.Gly44Val) rs199469672
NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del) rs199469693
NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del) rs199469694

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