ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 3

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_181882.3(PRX):c.718C>T (p.Arg240Trp) rs199863083 0.00011
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn) rs758614032 0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met) rs138437458 0.00003
NM_181882.3(PRX):c.80C>A (p.Thr27Asn) rs1291881750 0.00003
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter) rs1469912467 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro) rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile) rs1597608049
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro) rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) rs1597607967
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu) rs1597607638
NM_000304.4(PMP22):c.34C>T (p.His12Tyr) rs2150710219
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.418_438del (p.Trp140_Ala146del) rs2150664583
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro) rs1597635666
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.1152C>A (p.His384Gln) rs2132702519
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly) rs2132702182
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) rs121434563
NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) rs932803146
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.562del (p.Ala188fs)
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_181882.3(PRX):c.1012del (p.Ala338fs) rs1555801290
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs) rs2079443119
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061
NM_181882.3(PRX):c.4243G>A (p.Val1415Met) rs201222650
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln) rs2079403438

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