ClinVar Miner

List of variants in gene MED23 studied for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00372
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) rs151031376 0.00019
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) rs374403178 0.00006
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) rs1416942996 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_004830.4(MED23):c.2832dup (p.Val945fs) rs771485728 0.00002
NM_004830.4(MED23):c.695A>G (p.Asn232Ser) rs376144764 0.00002
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) rs370667926 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_004830.4(MED23):c.382G>A (p.Gly128Arg) rs569927513 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg) rs745997916
NM_004830.4(MED23):c.1957A>G (p.Ile653Val)
NM_004830.4(MED23):c.2062A>G (p.Ile688Val)
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
NM_004830.4(MED23):c.224del (p.Arg75fs) rs2114781844
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_004830.4(MED23):c.3145del (p.Tyr1048_Leu1049insTer)
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) rs146599947
NM_004830.4(MED23):c.3638A>G (p.His1213Arg) rs527236035
NM_004830.4(MED23):c.3939+5G>A rs753015353
NM_004830.4(MED23):c.3982C>A (p.Arg1328Ser)
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys) rs2114757071
NM_004830.4(MED23):c.539C>A (p.Ala180Asp) rs2114756866
NM_004830.4(MED23):c.670C>G (p.Arg224Gly) rs1293450628

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.