ClinVar Miner

List of variants studied for acquired amyloid peripheral neuropathy

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 195
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HGVS dbSNP
FGFR3, FGFR3/IGH FUSION
NC_000004.12:g.104314621_104314622insG
NM_000051.3(ATM):c.5005G>A (p.Glu1669Lys)
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu) rs104894340
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del)
NM_001033910.3(TRAF5):c.1250_1251AG[2] (p.Glu419fs)
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn)
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr)
NM_001080541.2(MGA):c.3733G>C (p.Glu1245Gln)
NM_001126112.2(TP53):c.216dup (p.Val73fs) rs730882018
NM_001126112.2(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_001126112.2(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_001126112.2(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_001126112.2(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_001126112.2(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_001126112.2(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>C (p.Asp281His) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)
NM_001163213.1(FGFR3):c.1954A>G (p.Lys652Glu) rs78311289
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001172567.2(MYD88):c.779T>C (p.Leu260Pro) rs387907272
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys)
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys)
NM_002185.5(IL7R):c.205C>G (p.Leu69Val)
NM_002312.3(LIG4):c.1882C>T (p.Arg628Trp) rs755708095
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002312.3(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)
NM_003200.5(TCF3):c.1823-478G>A
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)
NM_004048.3(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.3(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.3(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.3(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.3(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His)
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys)
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser) rs121913361
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp) rs397507483
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter)
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met)
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)
NM_005245.4(FAT1):c.720G>A (p.Met240Ile)
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)
NM_005627.4(SGK1):c.1094A>G (p.Asn365Ser)
NM_006037.3(HDAC4):c.1565C>T (p.Pro522Leu)
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)
NM_006494.4(ERF):c.228G>A (p.Met76Ile)
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)
NM_015247.2(CYLD):c.2040dup (p.Asp681fs)
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)
NM_016302.3(CRBN):c.1100A>T (p.Asn367Ile)
NM_017628.4(TET2):c.1438C>T (p.Pro480Ser)
NM_021946.4(BCORL1):c.2242C>T (p.Gln748Ter)
NM_033360.4(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_033360.4(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu)
NM_175629.2(DNMT3A):c.7G>T (p.Ala3Ser)
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)
NM_198433.3(AURKA):c.1038C>A (p.Phe346Leu)

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