ClinVar Miner

List of variants in gene MET studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00038
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00012
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn) rs367634278 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.105G>T (p.Met35Ile)
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1427A>T (p.His476Leu)
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.184A>G (p.Ile62Val)
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.191T>C (p.Leu64Pro)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.200C>A (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554
NM_000245.4(MET):c.2521T>G (p.Phe841Val) rs794728016
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2584-9del rs57349036
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.2821A>G (p.Ile941Val)
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3212T>C (p.Ile1071Thr)
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu)
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>T (p.Leu1165Phe)
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4055T>A (p.Val1352Glu)
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.803C>A (p.Thr268Asn)
NM_000245.4(MET):c.803C>G (p.Thr268Ser)
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377

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