ClinVar Miner

List of variants in gene HSPB8 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_014365.3(HSPB8):c.*644A>G rs11038 0.34575
NM_014365.3(HSPB8):c.*684G>A rs1133026 0.16667
NM_014365.3(HSPB8):c.582C>T (p.Thr194=) rs4628742 0.07444
NM_014365.3(HSPB8):c.*440C>G rs13378054 0.03707
NM_014365.3(HSPB8):c.402T>C (p.Ile134=) rs56323028 0.03035
NM_014365.3(HSPB8):c.-193T>C rs11549401 0.02683
NM_014365.3(HSPB8):c.552C>T (p.Asn184=) rs112052602 0.01515
NM_014365.3(HSPB8):c.*581G>A rs56754798 0.00690
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542 0.00046
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_014365.2(HSPB8):c.-480C>G rs886049024 0.00026
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu) rs141871482 0.00024
NM_014365.3(HSPB8):c.-201G>T rs764259720 0.00022
NM_014365.2(HSPB8):c.-457A>G rs564088535 0.00021
NM_014365.3(HSPB8):c.*788C>T rs975396136 0.00021
NM_014365.3(HSPB8):c.*648A>G rs770364674 0.00016
NM_014365.3(HSPB8):c.-314T>C rs754447057 0.00014
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val) rs373049356 0.00011
NM_014365.3(HSPB8):c.*123G>A rs987225344 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala) rs878854979 0.00009
NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys) rs754993844 0.00008
NM_014365.2(HSPB8):c.-419A>T rs1011802078 0.00006
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=) rs374476577 0.00006
NM_014365.3(HSPB8):c.*803T>C rs886049029 0.00005
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr) rs752044307 0.00004
NM_014365.3(HSPB8):c.523T>G (p.Ser175Ala) rs1000728639 0.00004
NM_014365.3(HSPB8):c.553G>A (p.Glu185Lys) rs774648716 0.00004
NM_014365.3(HSPB8):c.93G>C (p.Leu31=) rs147945133 0.00004
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn) rs1036182864 0.00003
NM_014365.3(HSPB8):c.319C>T (p.Pro107Ser) rs146000958 0.00003
NM_014365.3(HSPB8):c.431+15G>A rs777180667 0.00003
NM_014365.3(HSPB8):c.431+19T>C rs549655856 0.00003
NM_014365.3(HSPB8):c.534A>G (p.Gly178=) rs756610498 0.00003
NM_014365.3(HSPB8):c.147C>T (p.Pro49=) rs371236491 0.00002
NM_014365.3(HSPB8):c.164G>A (p.Arg55His) rs752911264 0.00002
NM_014365.3(HSPB8):c.193A>C (p.Arg65=) rs778903217 0.00002
NM_014365.3(HSPB8):c.255C>T (p.Gly85=) rs535698657 0.00002
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270 0.00002
NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln) rs747381453 0.00002
NM_014365.3(HSPB8):c.*67T>G rs886049026 0.00001
NM_014365.3(HSPB8):c.-172G>C rs886049025 0.00001
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser) rs762887808 0.00001
NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu) rs771827550 0.00001
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665 0.00001
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) rs1011669872 0.00001
NM_014365.3(HSPB8):c.174C>T (p.Ser58=) rs56046128 0.00001
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr) rs530083542 0.00001
NM_014365.3(HSPB8):c.198G>A (p.Ser66=) rs1041884451 0.00001
NM_014365.3(HSPB8):c.200G>T (p.Gly67Val) rs771852827 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp) rs977617023 0.00001
NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln) rs1312255584 0.00001
NM_014365.3(HSPB8):c.249C>T (p.Ala83=) rs1173959362 0.00001
NM_014365.3(HSPB8):c.250G>A (p.Glu84Lys) rs757293016 0.00001
NM_014365.3(HSPB8):c.264C>A (p.Pro88=) rs746791744 0.00001
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys) rs769296712 0.00001
NM_014365.3(HSPB8):c.309C>T (p.His103=) rs1401613594 0.00001
NM_014365.3(HSPB8):c.367+18G>A rs894486848 0.00001
NM_014365.3(HSPB8):c.375T>C (p.His125=) rs923916572 0.00001
NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser) rs1179250162 0.00001
NM_014365.3(HSPB8):c.44G>A (p.Arg15His) rs752348447 0.00001
NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu) rs1403551142 0.00001
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg) rs1256697965 0.00001
NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys) rs200120006 0.00001
NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter) rs759005659 0.00001
NM_014365.3(HSPB8):c.536A>G (p.Glu179Gly) rs863224767 0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243 0.00001
NM_014365.3(HSPB8):c.88C>T (p.Leu30=) rs1954620683 0.00001
NC_000012.11:g.(?_119617118)_(119624913_?)dup
NC_000012.11:g.(?_119624810)_(119624913_?)del
NC_000012.11:g.(?_119631484)_(119631663_?)dup
NC_000012.11:g.(?_119631494)_(119631673_?)dup
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.-522C>G rs981936850
NM_014365.3(HSPB8):c.*330A>T rs1954730443
NM_014365.3(HSPB8):c.*504T>C rs886049027
NM_014365.3(HSPB8):c.*616C>G rs6413487
NM_014365.3(HSPB8):c.*616C>T rs6413487
NM_014365.3(HSPB8):c.*707_*720delinsAAAA rs886049028
NM_014365.3(HSPB8):c.*848TAA[10] rs60924821
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.*860T>C rs1223485106
NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp) rs1172676336
NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser) rs920906527
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn) rs1954622196
NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg) rs1249375553
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp) rs1954622275
NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg) rs2136079909
NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)
NM_014365.3(HSPB8):c.147C>G (p.Pro49=) rs371236491
NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)
NM_014365.3(HSPB8):c.149A>T (p.Asp50Val) rs374254847
NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu) rs2136079920
NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)
NM_014365.3(HSPB8):c.174C>A (p.Ser58=) rs56046128
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs) rs1954622635
NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)
NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile) rs771054805
NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.3(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)
NM_014365.3(HSPB8):c.210C>A (p.Pro70=)
NM_014365.3(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)
NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)
NM_014365.3(HSPB8):c.21C>A (p.Pro7=) rs2136079832
NM_014365.3(HSPB8):c.228C>A (p.Thr76=)
NM_014365.3(HSPB8):c.228C>T (p.Thr76=)
NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met) rs767880226
NM_014365.3(HSPB8):c.243G>A (p.Val81=)
NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.3(HSPB8):c.266C>T (p.Pro89Leu) rs35909818
NM_014365.3(HSPB8):c.266del (p.Pro89fs)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)
NM_014365.3(HSPB8):c.273C>T (p.Phe91=)
NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)
NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)
NM_014365.3(HSPB8):c.312C>T (p.Ser104=)
NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)
NM_014365.3(HSPB8):c.32A>C (p.His11Pro)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer) rs1954624384
NM_014365.3(HSPB8):c.351A>T (p.Gly117=)
NM_014365.3(HSPB8):c.357G>A (p.Val119=) rs1196313978
NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)
NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr) rs1427416227
NM_014365.3(HSPB8):c.367+57del rs1181413905
NM_014365.3(HSPB8):c.372A>G (p.Lys124=)
NM_014365.3(HSPB8):c.374A>G (p.His125Arg) rs138733926
NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)
NM_014365.3(HSPB8):c.39A>G (p.Pro13=)
NM_014365.3(HSPB8):c.421A>C (p.Lys141Gln) rs104894351
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.3(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)
NM_014365.3(HSPB8):c.431+14A>C
NM_014365.3(HSPB8):c.431+14A>T
NM_014365.3(HSPB8):c.431+8A>G
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014365.3(HSPB8):c.432-10T>C
NM_014365.3(HSPB8):c.432-15G>A
NM_014365.3(HSPB8):c.432-8T>C
NM_014365.3(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys) rs1954619848
NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser) rs2136086280
NM_014365.3(HSPB8):c.45C>T (p.Arg15=) rs1565926943
NM_014365.3(HSPB8):c.461T>C (p.Val154Ala) rs1954726459
NM_014365.3(HSPB8):c.472C>T (p.Leu158Phe) rs144662422
NM_014365.3(HSPB8):c.483G>A (p.Glu161=)
NM_014365.3(HSPB8):c.498C>T (p.Ile166=)
NM_014365.3(HSPB8):c.501A>G (p.Glu167=)
NM_014365.3(HSPB8):c.502G>A (p.Ala168Thr) rs1592932884
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu) rs1592932892
NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)
NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)
NM_014365.3(HSPB8):c.508del (p.Gln170fs)
NM_014365.3(HSPB8):c.50G>A (p.Arg17His) rs146997263
NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)
NM_014365.3(HSPB8):c.510G>C (p.Gln170His)
NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)
NM_014365.3(HSPB8):c.515del (p.Pro172fs) rs1954727159
NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu) rs757849883
NM_014365.3(HSPB8):c.51C>T (p.Arg17=)
NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala) rs1592932914
NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)
NM_014365.3(HSPB8):c.541A>T (p.Ser181Cys) rs760688825
NM_014365.3(HSPB8):c.549C>T (p.Asn183=) rs2136086376
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe) rs1954727649
NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser) rs1829801528
NM_014365.3(HSPB8):c.563dup (p.Asp189fs) rs2136086393
NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)
NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) rs1954727878
NM_014365.3(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)
NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser) rs2136079863
NM_014365.3(HSPB8):c.81C>T (p.Ser27=) rs1954620581
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser) rs748320300
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys) rs748320300
NM_014365.3(HSPB8):c.86G>A (p.Arg29His)
NM_014365.3(HSPB8):c.87C>A (p.Arg29=)
NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)
NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)
NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu) rs952834680

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