ClinVar Miner

List of variants studied for Methylmalonic acidemia due to transcobalamin receptor defect by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_016579.4(CD320):c.23A>G (p.Gln8Arg) rs2232775 0.15598
NM_016579.4(CD320):c.447G>T (p.Thr149=) rs2232783 0.12037
NM_016579.4(CD320):c.483C>T (p.Ser161=) rs2232784 0.12037
NM_016579.4(CD320):c.268+19T>G rs2232780 0.11538
NM_016579.4(CD320):c.658G>A (p.Gly220Arg) rs2336573 0.11503
NM_016579.4(CD320):c.837C>G (p.Thr279=) rs2227289 0.11348
NM_016579.4(CD320):c.707-15A>T rs250511 0.08819
NM_016579.4(CD320):c.142+10G>C rs2232776 0.04348
NM_016579.4(CD320):c.769G>A (p.Glu257Lys) rs2232786 0.01208
NM_016579.4(CD320):c.522G>T (p.Pro174=) rs79658260 0.00731
NM_016579.4(CD320):c.772C>T (p.Arg258Cys) rs146190802 0.00572
NM_016579.4(CD320):c.143-11C>T rs116345590 0.00303
NM_016579.4(CD320):c.840G>A (p.Ser280=) rs2232787 0.00264
NM_016579.4(CD320):c.745C>T (p.Leu249Phe) rs115054912 0.00126
NM_016579.4(CD320):c.438T>C (p.Ile146=) rs146218039 0.00059
NM_016579.4(CD320):c.722G>A (p.Ser241Asn) rs140803270 0.00048
NM_016579.4(CD320):c.759C>T (p.Leu253=) rs200607555 0.00031
NM_016579.4(CD320):c.478G>A (p.Asp160Asn) rs188158114 0.00026
NM_016579.4(CD320):c.269-13C>A rs200852300 0.00019
NM_016579.4(CD320):c.378C>T (p.Asn126=) rs144097701 0.00019
NM_016579.4(CD320):c.446C>T (p.Thr149Met) rs201624090 0.00019
NM_016579.4(CD320):c.285C>T (p.Thr95=) rs181066013 0.00018
NM_016579.4(CD320):c.35G>T (p.Trp12Leu) rs763898394 0.00017
NM_016579.4(CD320):c.374G>A (p.Arg125His) rs375310833 0.00017
NM_016579.4(CD320):c.41C>T (p.Thr14Ile) rs374551944 0.00016
NM_016579.4(CD320):c.427G>A (p.Asp143Asn) rs767324816 0.00015
NM_016579.4(CD320):c.509A>G (p.Asn170Ser) rs146900609 0.00013
NM_016579.4(CD320):c.506C>T (p.Thr169Ile) rs558056448 0.00012
NM_016579.4(CD320):c.773G>A (p.Arg258His) rs143156732 0.00012
NM_016579.4(CD320):c.405C>T (p.Gly135=) rs372005633 0.00010
NM_016579.4(CD320):c.277C>T (p.Pro93Ser) rs377236965 0.00007
NM_016579.4(CD320):c.143-4G>A rs371174438 0.00006
NM_016579.4(CD320):c.588C>G (p.Ala196=) rs776070970 0.00006
NM_016579.4(CD320):c.761G>A (p.Arg254Gln) rs369347295 0.00006
NM_016579.4(CD320):c.657C>T (p.Ala219=) rs368089898 0.00005
NM_016579.4(CD320):c.333C>T (p.Thr111=) rs540057476 0.00004
NM_016579.4(CD320):c.760C>T (p.Arg254Ter) rs750760449 0.00004
NM_016579.4(CD320):c.88G>C (p.Gly30Arg) rs1314256093 0.00004
NM_016579.4(CD320):c.337G>A (p.Val113Ile) rs760524953 0.00003
NM_016579.4(CD320):c.497G>T (p.Gly166Val) rs769438880 0.00003
NM_016579.4(CD320):c.800C>T (p.Ala267Val) rs201869951 0.00003
NM_016579.4(CD320):c.126C>T (p.Thr42=) rs551205813 0.00002
NM_016579.4(CD320):c.318C>T (p.Leu106=) rs369646365 0.00002
NM_016579.4(CD320):c.519C>T (p.Leu173=) rs143803542 0.00002
NM_016579.4(CD320):c.681T>C (p.Thr227=) rs149721174 0.00002
NM_016579.4(CD320):c.111G>T (p.Pro37=) rs1161164051 0.00001
NM_016579.4(CD320):c.143-9A>G rs779568253 0.00001
NM_016579.4(CD320):c.166C>T (p.Pro56Ser) rs1970070203 0.00001
NM_016579.4(CD320):c.202G>A (p.Val68Met) rs748020753 0.00001
NM_016579.4(CD320):c.210C>T (p.Leu70=) rs780676013 0.00001
NM_016579.4(CD320):c.212C>G (p.Thr71Ser) rs560650557 0.00001
NM_016579.4(CD320):c.245A>T (p.Asp82Val) rs1367789828 0.00001
NM_016579.4(CD320):c.268+15C>T rs1352828155 0.00001
NM_016579.4(CD320):c.306G>A (p.Pro102=) rs755073624 0.00001
NM_016579.4(CD320):c.32C>A (p.Ala11Glu) rs567898376 0.00001
NM_016579.4(CD320):c.334G>A (p.Gly112Ser) rs948576208 0.00001
NM_016579.4(CD320):c.350C>T (p.Ser117Phe) rs1258505304 0.00001
NM_016579.4(CD320):c.404G>T (p.Gly135Val) rs751841592 0.00001
NM_016579.4(CD320):c.459C>T (p.Asp153=) rs750510195 0.00001
NM_016579.4(CD320):c.487G>A (p.Asp163Asn) rs767294120 0.00001
NM_016579.4(CD320):c.521C>T (p.Pro174Leu) rs368024906 0.00001
NM_016579.4(CD320):c.551C>T (p.Pro184Leu) rs529629965 0.00001
NM_016579.4(CD320):c.555G>A (p.Val185=) rs372678225 0.00001
NM_016579.4(CD320):c.633C>T (p.Val211=) rs377252284 0.00001
NM_016579.4(CD320):c.685T>C (p.Tyr229His) rs1423660217 0.00001
NM_016579.4(CD320):c.731C>T (p.Thr244Ile) rs557939985 0.00001
NM_016579.4(CD320):c.76G>A (p.Gly26Ser) rs748403746 0.00001
NM_016579.4(CD320):c.7G>A (p.Gly3Ser) rs778033415 0.00001
NM_016579.4(CD320):c.839C>T (p.Ser280Leu) rs1304619591 0.00001
NC_000019.10:g.(?_8302443)_(8308310_?)dup
NC_000019.9:g.(?_8367347)_(8370060_?)dup
NM_016579.4(CD320):c.103G>A (p.Ala35Thr)
NM_016579.4(CD320):c.11G>A (p.Gly4Asp) rs2232774
NM_016579.4(CD320):c.11G>C (p.Gly4Ala) rs2232774
NM_016579.4(CD320):c.133C>G (p.Gln45Glu)
NM_016579.4(CD320):c.139G>C (p.Ala47Pro) rs752406137
NM_016579.4(CD320):c.142+10G>A rs2232776
NM_016579.4(CD320):c.142+4A>G rs2512604071
NM_016579.4(CD320):c.143-5C>T rs758856967
NM_016579.4(CD320):c.167C>T (p.Pro56Leu) rs1329946054
NM_016579.4(CD320):c.168_171del (p.Thr57fs) rs2512598781
NM_016579.4(CD320):c.178C>T (p.Gln60Ter) rs1281977713
NM_016579.4(CD320):c.179A>T (p.Gln60Leu) rs2512598767
NM_016579.4(CD320):c.195_223del (p.Leu66fs) rs1359270715
NM_016579.4(CD320):c.201C>T (p.Cys67=)
NM_016579.4(CD320):c.204_205delinsAA (p.Pro69Thr)
NM_016579.4(CD320):c.229G>A (p.Asp77Asn) rs2512598633
NM_016579.4(CD320):c.240C>T (p.Cys80=) rs1970068665
NM_016579.4(CD320):c.242G>A (p.Ser81Asn) rs1970068590
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016579.4(CD320):c.256GAG[4] (p.Glu88_Cys89insGlu)
NM_016579.4(CD320):c.268+12C>T
NM_016579.4(CD320):c.268+4A>C rs2512598523
NM_016579.4(CD320):c.302C>G (p.Pro101Arg) rs1459500322
NM_016579.4(CD320):c.305C>T (p.Pro102Leu) rs767897892
NM_016579.4(CD320):c.314G>T (p.Gly105Val) rs867215292
NM_016579.4(CD320):c.326C>T (p.Pro109Leu)
NM_016579.4(CD320):c.32C>T (p.Ala11Val) rs567898376
NM_016579.4(CD320):c.356G>A (p.Gly119Glu)
NM_016579.4(CD320):c.356G>T (p.Gly119Val) rs1003366693
NM_016579.4(CD320):c.363C>A (p.Asp121Glu)
NM_016579.4(CD320):c.371T>C (p.Leu124Pro)
NM_016579.4(CD320):c.386G>T (p.Arg129Leu) rs139064611
NM_016579.4(CD320):c.3G>C (p.Met1Ile)
NM_016579.4(CD320):c.412C>A (p.Arg138Ser) rs201166605
NM_016579.4(CD320):c.442C>T (p.Leu148Phe)
NM_016579.4(CD320):c.451C>T (p.Arg151Cys) rs769150463
NM_016579.4(CD320):c.456C>T (p.Cys152=) rs758485696
NM_016579.4(CD320):c.473G>A (p.Cys158Tyr)
NM_016579.4(CD320):c.477C>A (p.Pro159=) rs201828443
NM_016579.4(CD320):c.477C>T (p.Pro159=)
NM_016579.4(CD320):c.486C>T (p.Ser162=) rs2512596279
NM_016579.4(CD320):c.495C>G (p.Leu165=) rs199545496
NM_016579.4(CD320):c.495C>T (p.Leu165=) rs199545496
NM_016579.4(CD320):c.502+12C>T
NM_016579.4(CD320):c.502+13G>C rs777346987
NM_016579.4(CD320):c.502+3A>G rs2512596207
NM_016579.4(CD320):c.502G>A (p.Gly168Arg) rs1460550191
NM_016579.4(CD320):c.503-17G>T rs766215870
NM_016579.4(CD320):c.503-18C>T rs114265368
NM_016579.4(CD320):c.522G>A (p.Pro174=) rs79658260
NM_016579.4(CD320):c.543G>A (p.Met181Ile)
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del) rs1568556291
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal) rs1568556291
NM_016579.4(CD320):c.584A>G (p.Asn195Ser)
NM_016579.4(CD320):c.599G>T (p.Gly200Val) rs2512594765
NM_016579.4(CD320):c.5G>T (p.Ser2Ile)
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup) rs750768529
NM_016579.4(CD320):c.621T>C (p.Ser207=)
NM_016579.4(CD320):c.622_624del (p.Val208del) rs2512594697
NM_016579.4(CD320):c.627C>G (p.Pro209=)
NM_016579.4(CD320):c.634G>A (p.Gly212Arg) rs550390075
NM_016579.4(CD320):c.634G>T (p.Gly212Trp) rs550390075
NM_016579.4(CD320):c.638A>C (p.Asn213Thr)
NM_016579.4(CD320):c.639T>G (p.Asn213Lys)
NM_016579.4(CD320):c.660A>C (p.Gly220=) rs2512594607
NM_016579.4(CD320):c.679A>C (p.Thr227Pro)
NM_016579.4(CD320):c.679A>G (p.Thr227Ala) rs766740010
NM_016579.4(CD320):c.698C>T (p.Ala233Val)
NM_016579.4(CD320):c.6C>T (p.Ser2=) rs749442494
NM_016579.4(CD320):c.708G>A (p.Ala236=) rs768870573
NM_016579.4(CD320):c.708G>T (p.Ala236=) rs768870573
NM_016579.4(CD320):c.73C>T (p.Leu25Phe)
NM_016579.4(CD320):c.75C>T (p.Leu25=) rs371432802
NM_016579.4(CD320):c.760C>A (p.Arg254=) rs750760449
NM_016579.4(CD320):c.96G>C (p.Glu32Asp) rs2512604305

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