ClinVar Miner

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

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 430
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HGVS dbSNP
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
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.*100G>A rs2233348
NM_006096.3(NDRG1):c.*1135G>A rs10675
NM_006096.3(NDRG1):c.*1622T>G rs7825439
NM_006096.3(NDRG1):c.*264C>G rs73711834
NM_006096.3(NDRG1):c.*653T>C rs147301529
NM_006096.3(NDRG1):c.*69C>T rs114738844
NM_006096.3(NDRG1):c.*711C>T rs16904866
NM_006096.3(NDRG1):c.*834T>A rs79281324
NM_006096.3(NDRG1):c.*866A>T rs16904865
NM_006096.3(NDRG1):c.-120C>T rs11575971
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.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
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.756-5C>T rs2227262
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.892-5C>T rs2233346
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_014629.4(ARHGEF10):c.2259+8T>C rs1015159398
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
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.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
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.2223G>T (p.Thr741=) rs181012139
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.27C>T (p.Ile9=) rs141040807
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.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
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.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*221_*222dup rs558848411
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
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.1504G>C (p.Glu502Gln) rs61735578
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.1674C>T (p.Ser558=) rs1555056924
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
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.547G>T (p.Ala183Ser) rs142155860
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.80+13C>T rs139510268
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.133C>G (p.Arg45Gly) rs115090201
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.306C>T (p.Thr102=) rs744389
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.*10485G>A rs76931184
NM_024577.3(SH3TC2):c.*10968G>A rs13166730
NM_024577.3(SH3TC2):c.*11120G>A rs2069087
NM_024577.3(SH3TC2):c.*11852G>T rs13359285
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*1309C>T rs1007401
NM_024577.3(SH3TC2):c.*14562G>A rs17109198
NM_024577.3(SH3TC2):c.*14621G>T rs17795097
NM_024577.3(SH3TC2):c.*14766T>A rs891919
NM_024577.3(SH3TC2):c.*14856C>A rs891920
NM_024577.3(SH3TC2):c.*1639T>C rs1007400
NM_024577.3(SH3TC2):c.*16631G>A rs4705303
NM_024577.3(SH3TC2):c.*16856_*16857CA[22] rs71957589
NM_024577.3(SH3TC2):c.*17036C>G rs75086059
NM_024577.3(SH3TC2):c.*17317G>A rs78254952
NM_024577.3(SH3TC2):c.*17903A>G rs76444127
NM_024577.3(SH3TC2):c.*19040A>G rs930205
NM_024577.3(SH3TC2):c.*1909G>T rs998304
NM_024577.3(SH3TC2):c.*1935T>C rs6883926
NM_024577.3(SH3TC2):c.*19519G>A rs10039839
NM_024577.3(SH3TC2):c.*19573G>A rs4560536
NM_024577.3(SH3TC2):c.*20166T>A rs17795091
NM_024577.3(SH3TC2):c.*20463T>C rs77021631
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21474_*21477AAAC[2] rs146796490
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*2397G>A rs17722155
NM_024577.3(SH3TC2):c.*2428C>T rs149384180
NM_024577.3(SH3TC2):c.*2900G>T rs3763019
NM_024577.3(SH3TC2):c.*2956C>T rs3763020
NM_024577.3(SH3TC2):c.*3196T>C rs3763022
NM_024577.3(SH3TC2):c.*3860G>A rs1432797
NM_024577.3(SH3TC2):c.*4719C>G rs6885467
NM_024577.3(SH3TC2):c.*5799C>T rs17109208
NM_024577.3(SH3TC2):c.*5999G>A rs79866394
NM_024577.3(SH3TC2):c.*6162C>T rs17795115
NM_024577.3(SH3TC2):c.*6436G>T rs11168079
NM_024577.3(SH3TC2):c.*6692A>G rs11168078
NM_024577.3(SH3TC2):c.*719G>A rs10050933
NM_024577.3(SH3TC2):c.*7292C>T rs1347130
NM_024577.3(SH3TC2):c.*8248G>C rs56309414
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.*8756G>T rs7733177
NM_024577.3(SH3TC2):c.*929G>C rs1432798
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.1194T>C (p.Gly398=) rs1432793
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.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
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.2235T>G (p.Ala745=) rs78120278
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.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
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.512G>A (p.Gly171Glu) rs17722293
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.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*177A>C rs192542785
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.2035G>A (p.Glu679Lys) rs7102464
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.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3111-6T>C rs16907139
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.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
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.4533A>G (p.Thr1511=) rs79251068
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.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_139241.3(FGD4):c.*1007G>A rs114843464
NM_139241.3(FGD4):c.*1148C>T rs56110646
NM_139241.3(FGD4):c.*1723C>T rs4931030
NM_139241.3(FGD4):c.*1828A>T rs4931031
NM_139241.3(FGD4):c.*22G>A rs114284024
NM_139241.3(FGD4):c.*2537C>A rs115173894
NM_139241.3(FGD4):c.*3130G>A rs73087441
NM_139241.3(FGD4):c.*3130G>T rs73087441
NM_139241.3(FGD4):c.*3630T>C rs73313005
NM_139241.3(FGD4):c.*3920del rs144034303
NM_139241.3(FGD4):c.*4063A>G rs62642552
NM_139241.3(FGD4):c.*4128C>T rs12312970
NM_139241.3(FGD4):c.*4211T>C rs75583772
NM_139241.3(FGD4):c.*4652T>C rs16920125
NM_139241.3(FGD4):c.*4956T>A rs149215917
NM_139241.3(FGD4):c.*792A>T rs140601094
NM_139241.3(FGD4):c.-246G>C rs77113168
NM_139241.3(FGD4):c.-433C>T rs11052033
NM_139241.3(FGD4):c.-484C>A rs79370524
NM_139241.3(FGD4):c.1059C>T (p.Pro353=) rs16920084
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1512-7A>G rs200542541
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1636-7T>C rs11052113
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_139241.3(FGD4):c.993+8G>A rs12823621
NM_181882.2(PRX):c.1026A>C (p.Ala342=) rs150772010
NM_181882.2(PRX):c.1051C>T (p.Pro351Ser) rs73933276
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.1625G>A (p.Arg542Gln) rs139586219
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.1964C>T (p.Pro655Leu) rs118003416
NM_181882.2(PRX):c.1980G>A (p.Pro660=) rs777413169
NM_181882.2(PRX):c.2017A>G (p.Met673Val) rs61735531
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.2727C>T (p.Pro909=) rs61735546
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.3218A>G (p.Glu1073Gly) rs61733451
NM_181882.2(PRX):c.3248C>G (p.Pro1083Arg) rs3745202
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.3702C>T (p.Gly1234=) rs139950446
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.731C>T (p.Ala244Val) rs118071705
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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