ClinVar Miner

List of variants in gene MTMR2 reported as pathogenic by Invitae

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402 0.00001
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter) rs751677491 0.00001
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs) rs1177373744 0.00001
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter) rs1864438088 0.00001
NM_016156.6(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs) rs1863723947
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs) rs1590974596
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs) rs758637255
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) rs1555057316
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter) rs1863365049
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs) rs1590997023
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer) rs1358449243
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.6(MTMR2):c.874del (p.Ser292fs) rs1863944217
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)

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