ClinVar Miner

List of variants reported as pathogenic for intrahepatic cholestasis

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_003612.5(SEMA7A):c.442C>T (p.Arg148Trp) rs200895370 0.00023
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter) rs72549401 0.00013
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) rs368124813 0.00005
NM_001080467.3(MYO5B):c.1201C>T (p.Arg401Cys) rs761492029 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_003742.4(ABCB11):c.908+1G>A rs147649016 0.00003
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val) rs1215965232 0.00002
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) rs746948055 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) rs199649780 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter) rs866839234 0.00002
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808 0.00002
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.403+2T>A rs769333468 0.00002
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) rs1458423947 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562 0.00001
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) rs72552780 0.00001
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) rs757693457 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter) rs1348610360 0.00001
NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter) rs769683740 0.00001
NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter) rs753989803 0.00001
NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter) rs771251472 0.00001
NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter) rs375497733 0.00001
NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter) rs776708126 0.00001
NM_001080467.3(MYO5B):c.1463T>C (p.Ile488Thr) rs780547885 0.00001
NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp) rs575729461 0.00001
NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys) rs372682296 0.00001
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter) rs751511532 0.00001
NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter) rs1452792080 0.00001
NM_001371395.1(USP53):c.1687del (p.Ser563fs) rs1263067327 0.00001
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter) rs376368459 0.00001
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser) rs762702807 0.00001
NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=) rs765716200 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.213dup (p.Lys72fs) rs1913405478 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495 0.00001
NM_001374385.1(ATP8B1):c.863T>C (p.Leu288Ser) rs121909099 0.00001
NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter) rs781206726 0.00001
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) rs1391374865 0.00001
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter) rs764125510 0.00001
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter) rs774824767 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter) rs756529333 0.00001
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965 0.00001
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys) rs72549398 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys) rs752992432 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_003742.4(ABCB11):c.611+1G>A rs769134865 0.00001
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) rs748191387 0.00001
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) rs748671901 0.00001
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) rs1563950539 0.00001
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) rs749009273 0.00001
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_018668.5(VPS33B):c.239+5G>A rs372769808 0.00001
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter) rs1388285232 0.00001
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
NC_000018.10:g.(57688508_57691806)_(57803316_?)del
NC_000018.9:g.55335906_55346620dup
NG_029843.1:g.23704_55438del
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter) rs148792791
NM_000443.4(ABCB4):c.202G>A (p.Gly68Arg)
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) rs387906529
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
NM_000443.4(ABCB4):c.2683-883_2783+345del
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs) rs1584678508
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3139_3141delinsCC (p.Ala1047fs)
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_000443.4(ABCB4):c.593del (p.Ala198fs)
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
NM_000443.4(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter) rs1890395046
NM_001080467.3(MYO5B):c.1860dup (p.Met621fs) rs1258766593
NM_001080467.3(MYO5B):c.2414+5G>T rs2144150424
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.3538-1G>A rs2144094082
NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys) rs2144383876
NM_001080467.3(MYO5B):c.[1135C>T;2470C>T]
NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) rs879255644
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter) rs113090017
NM_001206979.2(NR1H4):c.79G>T (p.Gly27Cys)
NM_001371395.1(USP53):c.1069dup (p.Ser357fs)
NM_001371395.1(USP53):c.1219A>T (p.Lys407Ter)
NM_001371395.1(USP53):c.510del (p.Ser171fs) rs2149374086
NM_001371395.1(USP53):c.583del (p.Arg195fs) rs1578499691
NM_001371395.1(USP53):c.725C>T (p.Pro242Leu) rs1561279060
NM_001371395.1(USP53):c.951del (p.Phe317fs) rs2149389813
NM_001374385.1(ATP8B1):c.-25-4014_181+2209del
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg)
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met) rs121909104
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter) rs770257115
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939
NM_001374385.1(ATP8B1):c.2500_2588del (p.Met834fs)
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys) rs121909103
NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)
NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)
NM_001374385.1(ATP8B1):c.2873del (p.Asn958fs)
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter) rs781213892
NM_001374385.1(ATP8B1):c.3400+2T>C
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
NM_001374385.1(ATP8B1):c.3531+1G>A
NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)
NM_001374385.1(ATP8B1):c.555-1G>C
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374385.1(ATP8B1):c.614dup (p.Asn205fs) rs761784230
NM_001374385.1(ATP8B1):c.698+564_941-154dup
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
NM_001374385.1(ATP8B1):c.886C>T (p.Arg296Cys)
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_003742.4(ABCB11):c.1062T>A (p.Tyr354Ter)
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1198-1G>C
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) rs913644236
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.132_133del (p.Arg44fs)
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter) rs2105967973
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter) rs1558898789
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) rs188824058
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
NM_003742.4(ABCB11):c.1941del (p.Gly648fs) rs1470131264
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.2075+3A>G
NM_003742.4(ABCB11):c.2178+1G>T
NM_003742.4(ABCB11):c.2178+2T>C rs1693198121
NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter) rs1371940395
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2451del (p.Tyr818fs) rs2105912644
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
NM_003742.4(ABCB11):c.2633_2636delinsAGAG (p.Met878_Ile879delinsLysArg)
NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)
NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro) rs747153406
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) rs2105891349
NM_003742.4(ABCB11):c.3230dup (p.Ile1078fs)
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly) rs764581483
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter) rs2105888359
NM_003742.4(ABCB11):c.3491del (p.Val1164fs) rs755647308
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
NM_003742.4(ABCB11):c.3586C>T (p.Gln1196Ter)
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) rs1231877314
NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter) rs1691171678
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter) rs1026511416
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
NM_003742.4(ABCB11):c.611+2dup
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_003742.4(ABCB11):c.908+1del rs1553469602
NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs) rs1418620415
NM_003742.4(ABCB11):c.99-2A>G
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) rs1182781290
NM_004817.4(TJP2):c.115-1G>A rs1588080680
NM_004817.4(TJP2):c.115-2A>C rs1588080674
NM_004817.4(TJP2):c.1157del (p.Gln386fs) rs2133314949
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) rs777460754
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) rs1251192873
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.1672-1G>A rs1588127136
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs) rs2133456150
NM_004817.4(TJP2):c.2667+3A>G
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.813_814del (p.Ala273fs) rs1554660803
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.885del (p.Ser296fs) rs587777519
NM_006742.3(PSKH1):c.361C>T (p.Arg121Trp)
NM_006742.3(PSKH1):c.376A>G (p.Ile126Val)
NM_006742.3(PSKH1):c.547C>T (p.Arg183Cys)
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter) rs1057519063

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