ClinVar Miner

List of variants studied for benign neoplasm by Rajkovic Lab, University of Pittsburgh

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.100-8T>A rs199469675 0.00001
NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn) rs199469689 0.00001
NM_005120.3(MED12):c.100-1_139del rs199469676
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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.