ClinVar Miner

List of variants reported as likely benign for demyelinating hereditary motor and sensory neuropathy by Invitae

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
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HGVS dbSNP
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) rs863224413
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.594+8G>T rs767524421
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) rs369862936
NM_006096.3(NDRG1):c.755+9C>T rs756756059
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1350C>G (p.Arg450=) rs763035100
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.1525C>T (p.Leu509=) rs146488614
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1923G>A (p.Lys641=) rs140078026
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.762C>T (p.Phe254=) rs201013726
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1674C>T (p.Ser558=) rs1555056924
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.54G>A (p.Arg18=) rs372164252
NM_016156.5(MTMR2):c.624A>G (p.Leu208=) rs979063255
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.5(MTMR2):c.960T>C (p.Asp320=) rs776038747
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) rs202010117
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) rs202215041
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) rs370099528
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.27+8C>A rs769214562
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
NM_020956.2(PRX):c.75G>A (p.Ala25=) rs766160977
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1177+9C>T rs375581325
NM_024577.3(SH3TC2):c.1178-8C>T rs202042438
NM_024577.3(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) rs748870159
NM_024577.3(SH3TC2):c.1284G>A (p.Glu428=) rs367691494
NM_024577.3(SH3TC2):c.1329G>A (p.Glu443=) rs150135768
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1788T>A (p.Gly596=) rs141893132
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
NM_024577.3(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1947C>T (p.His649=) rs576049662
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
NM_024577.3(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.529+10G>A rs768567281
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.732-6T>C rs1554122676
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.805+9G>A rs143808719
NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) rs750308484
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1569G>A (p.Lys523=) rs776951161
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1930-10G>T rs765561519
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.402+5A>G rs1060503800
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4699-9C>A rs376668219
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5112A>G (p.Leu1704=) rs370420894
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1512-7A>G rs200542541
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.1722A>G (p.Ala574=) rs771910342
NM_139241.3(FGD4):c.1950T>G (p.Leu650=) rs1358873743
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.2106C>T (p.Ser702=) rs777555137
NM_139241.3(FGD4):c.2149G>A (p.Val717Met) rs61753359
NM_139241.3(FGD4):c.2214T>C (p.Ala738=) rs200144770
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.417T>A (p.Pro139=) rs1295234161
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.635A>G (p.Asn212Ser) rs147969494
NM_139241.3(FGD4):c.783T>C (p.Asn261=) rs201678865
NM_181882.2(PRX):c.1026A>C (p.Ala342=) rs150772010
NM_181882.2(PRX):c.1129G>T (p.Val377Leu) rs754081921
NM_181882.2(PRX):c.1215C>T (p.Pro405=) rs377184301
NM_181882.2(PRX):c.1369G>A (p.Glu457Lys) rs142064826
NM_181882.2(PRX):c.1461G>A (p.Pro487=) rs757009052
NM_181882.2(PRX):c.1500A>G (p.Ser500=) rs777104457
NM_181882.2(PRX):c.1578G>A (p.Ser526=) rs567690884
NM_181882.2(PRX):c.1624C>T (p.Arg542Trp) rs201337455
NM_181882.2(PRX):c.1651G>A (p.Val551Met) rs61733448
NM_181882.2(PRX):c.1935C>T (p.Pro645=) rs763132536
NM_181882.2(PRX):c.1980G>A (p.Pro660=) rs777413169
NM_181882.2(PRX):c.2229C>T (p.Pro743=) rs144975214
NM_181882.2(PRX):c.2254G>A (p.Glu752Lys) rs147587689
NM_181882.2(PRX):c.2292C>T (p.Pro764=) rs142637195
NM_181882.2(PRX):c.2307G>A (p.Pro769=) rs148655811
NM_181882.2(PRX):c.2619C>T (p.Ala873=) rs761066015
NM_181882.2(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.2(PRX):c.2730C>T (p.Ala910=) rs878855283
NM_181882.2(PRX):c.2916G>T (p.Gly972=) rs1555800751
NM_181882.2(PRX):c.2943G>A (p.Gly981=) rs142228732
NM_181882.2(PRX):c.3145G>A (p.Gly1049Ser) rs186086914
NM_181882.2(PRX):c.3288C>A (p.Ile1096=) rs375122789
NM_181882.2(PRX):c.3375C>T (p.Gly1125=) rs755560307
NM_181882.2(PRX):c.3549C>T (p.Tyr1183=) rs367876251
NM_181882.2(PRX):c.3708G>A (p.Ala1236=) rs202119177
NM_181882.2(PRX):c.3804C>T (p.Ala1268=) rs553825184
NM_181882.2(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.2(PRX):c.3838G>C (p.Glu1280Gln) rs146205352
NM_181882.2(PRX):c.3867C>T (p.Ala1289=) rs759245840
NM_181882.2(PRX):c.3939G>A (p.Leu1313=) rs140109585
NM_181882.2(PRX):c.3947C>T (p.Ala1316Val) rs142762689
NM_181882.2(PRX):c.4224C>G (p.Pro1408=) rs1555800370
NM_181882.2(PRX):c.4317C>T (p.Ser1439=) rs372280596
NM_181882.2(PRX):c.445G>A (p.Ala149Thr) rs142436391
NM_181882.2(PRX):c.499C>T (p.Arg167Cys) rs10425452
NM_181882.2(PRX):c.540G>A (p.Pro180=) rs371243093
NM_181882.2(PRX):c.580C>T (p.Arg194Cys) rs45521038
NM_181882.2(PRX):c.597C>G (p.Ala199=) rs144157275
NM_181882.2(PRX):c.642C>A (p.Pro214=) rs551628239
NM_181882.2(PRX):c.719G>A (p.Arg240Gln) rs77917609
NM_181882.2(PRX):c.747C>T (p.Pro249=) rs3814289
NM_181882.2(PRX):c.771C>T (p.Ala257=) rs1555801357
NM_181882.2(PRX):c.794G>T (p.Gly265Val) rs374837022
NM_181882.2(PRX):c.936A>G (p.Leu312=) rs752086513
NM_181882.2(PRX):c.993G>A (p.Pro331=) rs146323928

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