ClinVar Miner

List of variants in gene MAST3 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001393504.1(MAST3):c.1274A>G (p.Lys425Arg)
NM_001393504.1(MAST3):c.1282A>G (p.Asn428Asp) rs2147368579
NM_001393504.1(MAST3):c.1303C>G (p.Arg435Gly)
NM_001393504.1(MAST3):c.1309C>A (p.Gln437Lys) rs2513111951
NM_001393504.1(MAST3):c.1510dup (p.Val504fs) rs2513139588
NM_001393504.1(MAST3):c.1539T>A (p.Tyr513Ter)
NM_001393504.1(MAST3):c.1555G>C (p.Asp519His) rs2513140295
NM_001393504.1(MAST3):c.1591G>T (p.Gly531Cys) rs2513188224
NM_001393504.1(MAST3):c.1735G>A (p.Glu579Lys) rs2513193823
NM_001393504.1(MAST3):c.1873G>A (p.Glu625Lys)
NM_001393504.1(MAST3):c.188T>C (p.Leu63Ser)
NM_001393504.1(MAST3):c.1906C>A (p.Pro636Thr)
NM_001393504.1(MAST3):c.1931C>T (p.Thr644Ile) rs767928225
NM_001393504.1(MAST3):c.2085C>G (p.Ser695Arg) rs2513239584
NM_001393504.1(MAST3):c.2098C>T (p.Arg700Cys)
NM_001393504.1(MAST3):c.2177T>A (p.Phe726Tyr)
NM_001393504.1(MAST3):c.2205G>A (p.Lys735=)
NM_001393504.1(MAST3):c.220C>G (p.Arg74Gly) rs2040004769
NM_001393504.1(MAST3):c.2212A>G (p.Ser738Gly)
NM_001393504.1(MAST3):c.2458T>G (p.Phe820Val)
NM_001393504.1(MAST3):c.2582C>T (p.Ser861Phe)
NM_001393504.1(MAST3):c.2638C>T (p.Arg880Ter) rs2513420884
NM_001393504.1(MAST3):c.2842C>G (p.Pro948Ala)
NM_001393504.1(MAST3):c.2882G>C (p.Arg961Pro) rs1452121136
NM_001393504.1(MAST3):c.3065A>G (p.Gln1022Arg)
NM_001393504.1(MAST3):c.3283_3300dup (p.Arg1100_Cys1101insArgGluThrGlnAspArg)
NM_001393504.1(MAST3):c.3406C>T (p.His1136Tyr) rs2043153920
NM_001393504.1(MAST3):c.3586C>T (p.Pro1196Ser)
NM_001393504.1(MAST3):c.3617T>G (p.Leu1206Arg)
NM_001393504.1(MAST3):c.3657del (p.Ser1220fs)
NM_001393504.1(MAST3):c.3707C>T (p.Pro1236Leu)
NM_001393504.1(MAST3):c.3725_3746del (p.Pro1242fs)
NM_001393504.1(MAST3):c.3898_3899del (p.Ser1300fs)
NM_001393504.1(MAST3):c.589G>A (p.Glu197Lys)
NM_001393504.1(MAST3):c.602T>C (p.Met201Thr)
NM_001393504.1(MAST3):c.71+6T>G
NM_001393504.1(MAST3):c.826G>C (p.Glu276Gln)
NM_001393504.1(MAST3):c.848A>G (p.His283Arg)

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.