ClinVar Miner

List of variants studied for MED12-related intellectual disability syndrome by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185

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