ClinVar Miner

List of variants in gene TMEM127 reported as likely benign by Invitae

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Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.573G>A (p.Thr191=) rs147816248 0.00028
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_017849.4(TMEM127):c.410-17G>A rs369750335 0.00016
NM_017849.4(TMEM127):c.522C>T (p.Ala174=) rs367951215 0.00009
NM_017849.4(TMEM127):c.324C>T (p.Leu108=) rs148381232 0.00007
NM_017849.4(TMEM127):c.348T>C (p.Phe116=) rs926978443 0.00005
NM_017849.4(TMEM127):c.213G>A (p.Val71=) rs777169152 0.00004
NM_017849.4(TMEM127):c.270G>T (p.Val90=) rs748896126 0.00004
NM_017849.4(TMEM127):c.393C>T (p.Phe131=) rs756680897 0.00004
NM_017849.4(TMEM127):c.519C>T (p.Phe173=) rs758676810 0.00004
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=) rs201935270 0.00003
NM_017849.4(TMEM127):c.267A>G (p.Thr89=) rs773384410 0.00002
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718 0.00002
NM_017849.4(TMEM127):c.409+19C>T rs1484437085 0.00002
NM_017849.4(TMEM127):c.409+8G>A rs749887924 0.00002
NM_017849.4(TMEM127):c.410-4C>T rs1412595514 0.00002
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_017849.4(TMEM127):c.410-7C>T rs375440877 0.00002
NM_017849.4(TMEM127):c.438T>C (p.Phe146=) rs774321958 0.00002
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721 0.00002
NM_017849.4(TMEM127):c.486G>A (p.Lys162=) rs536032990 0.00002
NM_017849.4(TMEM127):c.489G>A (p.Lys163=) rs757792507 0.00002
NM_017849.4(TMEM127):c.129G>A (p.Ala43=) rs1478096731 0.00001
NM_017849.4(TMEM127):c.130C>T (p.Leu44=) rs754493061 0.00001
NM_017849.4(TMEM127):c.204C>T (p.Val68=) rs775642794 0.00001
NM_017849.4(TMEM127):c.245-3C>T rs181429509 0.00001
NM_017849.4(TMEM127):c.245-4A>G rs962270831 0.00001
NM_017849.4(TMEM127):c.245-7T>C rs1266586655 0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=) rs754465684 0.00001
NM_017849.4(TMEM127):c.315G>T (p.Leu105=) rs1440094325 0.00001
NM_017849.4(TMEM127):c.330T>C (p.Ala110=) rs1157106593 0.00001
NM_017849.4(TMEM127):c.333C>T (p.Phe111=) rs1467642553 0.00001
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291 0.00001
NM_017849.4(TMEM127):c.384C>T (p.Arg128=) rs755188175 0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017849.4(TMEM127):c.408G>T (p.Thr136=) rs143522428 0.00001
NM_017849.4(TMEM127):c.410-18T>C rs1374413238 0.00001
NM_017849.4(TMEM127):c.410-5C>T rs1356874783 0.00001
NM_017849.4(TMEM127):c.411T>A (p.Val137=) rs760099422 0.00001
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.435C>G (p.Gly145=) rs761795793 0.00001
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854 0.00001
NM_017849.4(TMEM127):c.585C>T (p.Leu195=) rs758874572 0.00001
NM_017849.4(TMEM127):c.633C>T (p.Leu211=) rs368792184 0.00001
NM_017849.4(TMEM127):c.651C>T (p.Asn217=) rs759801591 0.00001
NM_017849.4(TMEM127):c.657C>T (p.Pro219=) rs1213216357 0.00001
NM_017849.4(TMEM127):c.663G>A (p.Pro221=) rs377760956 0.00001
NM_017849.4(TMEM127):c.666G>A (p.Ala222=) rs772481029 0.00001
NM_017849.4(TMEM127):c.126G>A (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>C (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>T (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.129G>T (p.Ala43=)
NM_017849.4(TMEM127):c.144C>T (p.Leu48=) rs1684391372
NM_017849.4(TMEM127):c.147C>G (p.Ala49=) rs750237643
NM_017849.4(TMEM127):c.153C>G (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.153C>T (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.165C>T (p.His55=)
NM_017849.4(TMEM127):c.168C>T (p.Ile56=) rs2104307611
NM_017849.4(TMEM127):c.171C>T (p.His57=) rs1573977723
NM_017849.4(TMEM127):c.177C>T (p.Gly59=)
NM_017849.4(TMEM127):c.186G>A (p.Ser62=) rs1573977697
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.198G>A (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.198G>C (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.201G>A (p.Gly67=) rs1684388788
NM_017849.4(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.4(TMEM127):c.213G>T (p.Val71=) rs777169152
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.222T>C (p.Tyr74=) rs2104307270
NM_017849.4(TMEM127):c.225G>A (p.Val75=) rs1358019729
NM_017849.4(TMEM127):c.231G>A (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.231G>C (p.Pro77=)
NM_017849.4(TMEM127):c.231G>T (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.234C>T (p.Asp78=) rs752578568
NM_017849.4(TMEM127):c.238C>T (p.Leu80=) rs1436382974
NM_017849.4(TMEM127):c.244+10C>G
NM_017849.4(TMEM127):c.244+13C>T
NM_017849.4(TMEM127):c.244+14G>C rs2104307098
NM_017849.4(TMEM127):c.244+15C>T
NM_017849.4(TMEM127):c.244+16G>C
NM_017849.4(TMEM127):c.244+20G>T rs779488412
NM_017849.4(TMEM127):c.244+7G>A
NM_017849.4(TMEM127):c.244+7G>T rs1573977543
NM_017849.4(TMEM127):c.244+8T>C
NM_017849.4(TMEM127):c.245-10C>T
NM_017849.4(TMEM127):c.245-12C>T
NM_017849.4(TMEM127):c.245-15G>C
NM_017849.4(TMEM127):c.245-16G>C rs368141539
NM_017849.4(TMEM127):c.245-20A>T
NM_017849.4(TMEM127):c.245-21_245-20dup
NM_017849.4(TMEM127):c.245-5T>G
NM_017849.4(TMEM127):c.245-7T>G
NM_017849.4(TMEM127):c.261C>G (p.Pro87=) rs1447112240
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
NM_017849.4(TMEM127):c.270G>A (p.Val90=) rs748896126
NM_017849.4(TMEM127):c.271C>T (p.Leu91=)
NM_017849.4(TMEM127):c.276C>G (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.276C>T (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.280C>A (p.Arg94=) rs121908824
NM_017849.4(TMEM127):c.282G>T (p.Arg94=)
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.291C>G (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.291C>T (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.294C>T (p.Ala98=) rs1684173194
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
NM_017849.4(TMEM127):c.309C>T (p.Gly103=)
NM_017849.4(TMEM127):c.312C>T (p.Ile104=) rs2104287512
NM_017849.4(TMEM127):c.315G>A (p.Leu105=) rs1440094325
NM_017849.4(TMEM127):c.321T>C (p.Ser107=) rs1553437007
NM_017849.4(TMEM127):c.327C>G (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.330T>A (p.Ala110=)
NM_017849.4(TMEM127):c.345C>G (p.Val115=)
NM_017849.4(TMEM127):c.345C>T (p.Val115=)
NM_017849.4(TMEM127):c.363T>C (p.Pro121=) rs1684170058
NM_017849.4(TMEM127):c.375C>T (p.Ile125=) rs1260610916
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
NM_017849.4(TMEM127):c.396C>T (p.Ala132=) rs2104286934
NM_017849.4(TMEM127):c.399T>C (p.His133=)
NM_017849.4(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.4(TMEM127):c.408G>A (p.Thr136=) rs143522428
NM_017849.4(TMEM127):c.409+11A>G
NM_017849.4(TMEM127):c.409+12G>A
NM_017849.4(TMEM127):c.409+16G>A
NM_017849.4(TMEM127):c.409+17C>G
NM_017849.4(TMEM127):c.409+8G>C rs749887924
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-10del rs1437132124
NM_017849.4(TMEM127):c.410-11_410-10del
NM_017849.4(TMEM127):c.410-12T>C
NM_017849.4(TMEM127):c.410-13C>T rs2104285437
NM_017849.4(TMEM127):c.410-14C>T rs1182765406
NM_017849.4(TMEM127):c.410-14_410-13dup
NM_017849.4(TMEM127):c.410-18del rs1444758693
NM_017849.4(TMEM127):c.410-19C>T
NM_017849.4(TMEM127):c.410-4C>G
NM_017849.4(TMEM127):c.410-6T>A
NM_017849.4(TMEM127):c.410-9G>A
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
NM_017849.4(TMEM127):c.414G>T (p.Leu138=) rs2104285371
NM_017849.4(TMEM127):c.450T>G (p.Ala150=) rs2104285217
NM_017849.4(TMEM127):c.453T>C (p.Ser151=)
NM_017849.4(TMEM127):c.456A>G (p.Glu152=) rs1573969367
NM_017849.4(TMEM127):c.459C>T (p.Leu153=)
NM_017849.4(TMEM127):c.463T>C (p.Leu155=) rs2104285151
NM_017849.4(TMEM127):c.468C>T (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.495T>C (p.His165=)
NM_017849.4(TMEM127):c.501C>G (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.501C>T (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.516C>T (p.Thr172=)
NM_017849.4(TMEM127):c.543A>G (p.Ala181=) rs2104284290
NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
NM_017849.4(TMEM127):c.555A>C (p.Gly185=) rs2104284151
NM_017849.4(TMEM127):c.561A>G (p.Ser187=)
NM_017849.4(TMEM127):c.564C>A (p.Ile188=)
NM_017849.4(TMEM127):c.564C>T (p.Ile188=) rs536921173
NM_017849.4(TMEM127):c.567G>A (p.Leu189=) rs776732082
NM_017849.4(TMEM127):c.582C>T (p.Asn194=) rs2104283819
NM_017849.4(TMEM127):c.588G>A (p.Leu196=) rs1684146150
NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)
NM_017849.4(TMEM127):c.600C>A (p.Pro200=) rs1060503974
NM_017849.4(TMEM127):c.603A>C (p.Thr201=) rs1270359170
NM_017849.4(TMEM127):c.609A>G (p.Glu203=) rs750072653
NM_017849.4(TMEM127):c.615G>A (p.Glu205=)
NM_017849.4(TMEM127):c.618G>A (p.Gln206=)
NM_017849.4(TMEM127):c.627G>A (p.Glu209=) rs2104283355
NM_017849.4(TMEM127):c.630G>A (p.Leu210=) rs1573969028
NM_017849.4(TMEM127):c.630G>T (p.Leu210=)
NM_017849.4(TMEM127):c.633C>G (p.Leu211=) rs368792184
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
NM_017849.4(TMEM127):c.690C>T (p.Phe230=) rs1684140585
NM_017849.4(TMEM127):c.699C>G (p.Pro233=)
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=) rs2104282548
NM_017849.4(TMEM127):c.711A>G (p.Thr237=) rs2104282530
NM_017849.4(TMEM127):c.714C>T (p.Pro238=)

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