ClinVar Miner

List of variants in gene MED25 reported as benign for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020

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