ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate D

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.*752G>A rs533147214 0.00034
NM_000530.8(MPZ):c.*341A>G rs557613782 0.00033
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_000530.8(MPZ):c.*435T>G rs868502674 0.00026
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*102C>T rs774748921 0.00007
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.*522C>A rs900816889 0.00002
NM_000530.8(MPZ):c.449-9C>T rs750530042 0.00002
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
NM_000530.8(MPZ):c.*369C>T rs1359055917 0.00001
NM_000530.8(MPZ):c.*903G>A rs1489097338 0.00001
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NC_000001.11:g.161305808_161309983dup
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_000530.8(MPZ):c.*4T>G rs1670223090
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>C (p.Asp35His) rs121913596
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.112G>T (p.Val38Phe) rs2102260135
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) rs1670288209
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) rs121913602
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.234+1G>A
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn)
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) rs1558154010
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) rs1558154010
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>T (p.Asp134Val) rs1571818775
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) rs1670257548
NM_000530.8(MPZ):c.449-2A>G rs2102258343
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.585-2A>G
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.597G>C (p.Lys199Asn)
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG rs2102257349
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_024577.4(SH3TC2):c.1177+5G>A rs1561765688
NP_000521.1(MPZ):p.Asn116Ser
Single allele

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