ClinVar Miner

List of variants in gene MTMR2 studied for not specified

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131= (p.Thr377=) rs566204 0.71637
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_016156.6(MTMR2):c.-35G>C rs115278720 0.00436
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=) rs200285624 0.00006
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=) rs775961979 0.00005
NM_016156.6(MTMR2):c.186+9A>G rs371081575 0.00004
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.522C>T (p.Ser174=) rs146014892 0.00003
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=) rs376166939 0.00001
NM_016156.6(MTMR2):c.1480-20T>C rs371041744 0.00001
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr) rs752626893 0.00001
NM_016156.6(MTMR2):c.1770+3A>G rs756909627 0.00001
NM_016156.6(MTMR2):c.81-4G>C rs757563852 0.00001
NC_000011.9:g.(?_95566043)_(95657272_?)dup
NM_016156.6(MTMR2):c.1233G>T (p.Thr411=) rs113897932
NM_016156.6(MTMR2):c.1610C>T (p.Thr537Ile)
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=) rs1555056916
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.6(MTMR2):c.825T>A (p.Pro275=) rs1057523668
NM_016156.6(MTMR2):c.8= (p.Lys3=) rs3824874

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