ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive DOPA responsive dystonia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 362
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_000360.4(TH):c.90G>A (p.Met30Ile) rs147416823 0.00009
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.1277C>T (p.Thr426Met) rs201330304 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.758A>T (p.Glu253Val) rs369397659 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.90+7G>T rs746965239 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1237G>A (p.Asp413Asn) rs201996748 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.649G>A (p.Asp217Asn) rs371488205 0.00003
NM_000360.4(TH):c.779G>T (p.Arg260Leu) rs372142970 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.1084G>A (p.Glu362Lys) rs776917257 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.220G>C (p.Glu74Gln) rs748493792 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.386A>C (p.Glu129Ala) rs745829277 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln) rs996766545 0.00002
NM_000360.4(TH):c.1038G>C (p.Gln346His) rs770006796 0.00001
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1151A>G (p.Glu384Gly) rs540601354 0.00001
NM_000360.4(TH):c.1156A>G (p.Lys386Glu) rs1846071121 0.00001
NM_000360.4(TH):c.1200+5G>C rs774895306 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1393G>A (p.Ala465Thr) rs1846021958 0.00001
NM_000360.4(TH):c.1394C>T (p.Ala465Val) rs1846021859 0.00001
NM_000360.4(TH):c.1426C>T (p.Arg476Trp) rs201616746 0.00001
NM_000360.4(TH):c.1427G>A (p.Arg476Gln) rs774575772 0.00001
NM_000360.4(TH):c.1429C>T (p.Arg477Cys) rs78779683 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.1490G>A (p.Gly497Asp) rs753632777 0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val) rs1338337952 0.00001
NM_000360.4(TH):c.185C>T (p.Ser62Leu) rs574633942 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.331C>T (p.His111Tyr) rs911394543 0.00001
NM_000360.4(TH):c.340G>A (p.Glu114Lys) rs759435668 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.392T>C (p.Phe131Ser) rs958536401 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.427G>A (p.Ala143Thr) rs201911992 0.00001
NM_000360.4(TH):c.434T>A (p.Leu145His) rs758527628 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.445C>T (p.Arg149Cys) rs779228923 0.00001
NM_000360.4(TH):c.457G>A (p.Glu153Lys) rs754247629 0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly) rs766666741 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.574C>T (p.Pro192Ser) rs753359396 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.576+3G>A rs761872336 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.739G>C (p.Ala247Pro) rs373283527 0.00001
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.773T>C (p.Leu258Pro) rs1846111747 0.00001
NM_000360.4(TH):c.823G>A (p.Val275Ile) rs770941754 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.91-853C>T rs756331878 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NC_000011.9:g.(?_1278740)_(2906719_?)dup
NC_000011.9:g.(?_612625)_(2193840_?)dup
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1025G>T (p.Arg342Leu) rs768713710
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1047+3A>G rs1564917483
NM_000360.4(TH):c.1047G>A (p.Gln349=)
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.107G>T (p.Gly36Val)
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
NM_000360.4(TH):c.1104+3G>A
NM_000360.4(TH):c.1104+4G>A
NM_000360.4(TH):c.1104+4G>T rs747560095
NM_000360.4(TH):c.1104+6T>C
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1121T>C (p.Val374Ala) rs1846072496
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1143G>T (p.Gln381His)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1162T>C (p.Tyr388His) rs1846070989
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1171G>C (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
NM_000360.4(TH):c.1200+5G>A
NM_000360.4(TH):c.120C>A (p.Ser40Arg) rs766048900
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
NM_000360.4(TH):c.1262C>T (p.Pro421Leu) rs752022049
NM_000360.4(TH):c.1271A>C (p.Asp424Ala) rs1590165136
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.1288G>A (p.Val430Ile) rs2133688950
NM_000360.4(TH):c.1296C>A (p.Phe432Leu) rs760210103
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1324G>C (p.Asp442His) rs775587609
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
NM_000360.4(TH):c.1369G>A (p.Val457Met)
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
NM_000360.4(TH):c.1401C>A (p.Asp467Glu) rs3842724
NM_000360.4(TH):c.1440G>T (p.Glu480Asp) rs1405705464
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.1442G>T (p.Gly481Val) rs564949885
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
NM_000360.4(TH):c.1450G>C (p.Asp484His)
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
NM_000360.4(TH):c.1459G>C (p.Asp487His) rs2133686524
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
NM_000360.4(TH):c.152C>T (p.Ala51Val)
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
NM_000360.4(TH):c.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
NM_000360.4(TH):c.217T>C (p.Phe73Leu) rs577028504
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
NM_000360.4(TH):c.245T>G (p.Leu82Arg) rs990443240
NM_000360.4(TH):c.259T>C (p.Ser87Pro) rs1846199834
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
NM_000360.4(TH):c.284C>A (p.Ala95Glu) rs769126179
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.286_312+18dup rs1388275002
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.298G>A (p.Val100Met) rs1353856728
NM_000360.4(TH):c.298G>C (p.Val100Leu)
NM_000360.4(TH):c.302A>G (p.Lys101Arg) rs1284709971
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.312+6C>T rs753670938
NM_000360.4(TH):c.314C>T (p.Thr105Met)
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
NM_000360.4(TH):c.32C>A (p.Ala11Asp) rs933425557
NM_000360.4(TH):c.32C>G (p.Ala11Gly) rs933425557
NM_000360.4(TH):c.337C>G (p.Leu113Val) rs1846169186
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
NM_000360.4(TH):c.385G>A (p.Glu129Lys) rs1178215140
NM_000360.4(TH):c.394G>C (p.Val132Leu) rs751702426
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
NM_000360.4(TH):c.398G>T (p.Arg133Leu) rs376881948
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del) rs1846165944
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
NM_000360.4(TH):c.443T>C (p.Val148Ala) rs942789428
NM_000360.4(TH):c.446G>A (p.Arg149His)
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000360.4(TH):c.463G>A (p.Val155Met)
NM_000360.4(TH):c.467G>A (p.Arg156His)
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
NM_000360.4(TH):c.476C>T (p.Ala159Val)
NM_000360.4(TH):c.479G>A (p.Gly160Glu) rs777823354
NM_000360.4(TH):c.487+118G>A
NM_000360.4(TH):c.488-17C>G rs918432885
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
NM_000360.4(TH):c.50C>A (p.Ala17Asp) rs2133704171
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
NM_000360.4(TH):c.550G>C (p.Asp184His)
NM_000360.4(TH):c.575C>T (p.Pro192Leu) rs760346235
NM_000360.4(TH):c.576+6T>C
NM_000360.4(TH):c.577-22_577-5del
NM_000360.4(TH):c.577-3C>T
NM_000360.4(TH):c.577G>A (p.Gly193Ser) rs2133695838
NM_000360.4(TH):c.58G>A (p.Glu20Lys) rs2133704152
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.628G>T (p.Ala210Ser) rs1260455415
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
NM_000360.4(TH):c.635A>G (p.Gln212Arg) rs1002471580
NM_000360.4(TH):c.645C>A (p.His215Gln) rs768037080
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.680A>C (p.Glu227Ala) rs929509309
NM_000360.4(TH):c.685A>C (p.Ile229Leu) rs778613708
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
NM_000360.4(TH):c.713C>T (p.Thr238Met) rs757607038
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.727T>C (p.Tyr243His) rs1196330512
NM_000360.4(TH):c.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
NM_000360.4(TH):c.755T>C (p.Leu252Pro) rs978552119
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
NM_000360.4(TH):c.767C>T (p.Ala256Val)
NM_000360.4(TH):c.778C>G (p.Arg260Gly) rs376462928
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.821A>G (p.Asp274Gly)
NM_000360.4(TH):c.824T>G (p.Val275Gly) rs2133693418
NM_000360.4(TH):c.829C>A (p.Arg277Ser) rs2133693392
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
NM_000360.4(TH):c.841+3G>A rs528887823
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.842-10C>A rs1397228949
NM_000360.4(TH):c.842-3C>A
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
NM_000360.4(TH):c.91-20_91-10del rs2133700266
NM_000360.4(TH):c.91-819G>A rs1330998143
NM_000360.4(TH):c.91-819G>T rs1330998143
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-847C>T
NM_000360.4(TH):c.91-851G>A rs1186732715
NM_000360.4(TH):c.91-856C>A
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-875G>A
NM_000360.4(TH):c.91-886C>T
NM_000360.4(TH):c.91-893C>T
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.920T>C (p.Val307Ala)
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
NM_000360.4(TH):c.977+8C>T rs12419447
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
NM_199292.2(TH):c.-69T>A rs1554924394

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