ClinVar Miner

List of variants reported as pathogenic for intermediate Charcot-Marie-Tooth disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694 0.00006
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) rs538389475 0.00004
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr) rs1279417718 0.00001
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) rs751986220 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter) rs779894269 0.00001
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter) rs1443592761 0.00001
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs) rs1266507622 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NC_000008.10:g.(?_75262697)_(75276602_?)del
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter) rs2131493453
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
NM_018972.4(GDAP1):c.1del (p.Met1fs)
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter) rs1586794015
NM_018972.4(GDAP1):c.235_239del (p.Val79fs) rs1243845978
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) rs1808867656
NM_018972.4(GDAP1):c.250del (p.Glu84fs) rs1241632021
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs) rs2131493519
NM_018972.4(GDAP1):c.310+1G>A rs1808872865
NM_018972.4(GDAP1):c.361del (p.Val121fs) rs2131512540
NM_018972.4(GDAP1):c.367del (p.His123fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.536del (p.Pro179fs) rs1169652308
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) rs1085307665
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) rs1809447471
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) rs1644626732
NM_020631.6(PLEKHG5):c.1053C>G (p.Tyr351Ter)
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) rs1644591704
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) rs1644550472
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) rs1644549927
NM_020631.6(PLEKHG5):c.1613_1632del (p.Leu538fs)
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) rs1644525008
NM_020631.6(PLEKHG5):c.185del (p.Lys62fs)
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
NM_020631.6(PLEKHG5):c.1977dup (p.Gly660fs)
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs) rs2148578668
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter) rs184242303
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
NM_020631.6(PLEKHG5):c.2173G>T (p.Glu725Ter)
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs) rs759212541
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs) rs2148591365
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) rs1644651573
NM_020631.6(PLEKHG5):c.892_919del (p.Ser298fs)
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter) rs376900021
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.271C>G (p.Arg91Gly) rs200247054
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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