ClinVar Miner

List of variants in gene HSPB1 reported as likely benign 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: 82
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178 0.00056
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625 0.00049
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_001540.5(HSPB1):c.531C>T (p.Asn177=) rs754873919 0.00024
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324 0.00011
NM_001540.5(HSPB1):c.365-7C>G rs201897299 0.00011
NM_001540.5(HSPB1):c.428+13G>T rs553117142 0.00008
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.174G>C (p.Leu58=) rs892258745 0.00006
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941 0.00005
NM_001540.5(HSPB1):c.45C>T (p.Ser15=) rs780878780 0.00005
NM_001540.5(HSPB1):c.537C>A (p.Ile179=) rs372981842 0.00005
NM_001540.5(HSPB1):c.39C>T (p.Gly13=) rs750588141 0.00004
NM_001540.5(HSPB1):c.417G>A (p.Thr139=) rs754991269 0.00004
NM_001540.5(HSPB1):c.225C>G (p.Arg75=) rs535398122 0.00003
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061 0.00003
NM_001540.5(HSPB1):c.333C>A (p.Val111=) rs1240082057 0.00003
NM_001540.5(HSPB1):c.364+10C>A rs577343607 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608 0.00002
NM_001540.5(HSPB1):c.162C>T (p.Tyr54=) rs770285235 0.00002
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.339C>G (p.Thr113=) rs751064405 0.00002
NM_001540.5(HSPB1):c.351G>A (p.Val117=) rs1279432561 0.00002
NM_001540.5(HSPB1):c.365-4A>G rs373485993 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_001540.5(HSPB1):c.198C>T (p.Pro66=) rs763909905 0.00001
NM_001540.5(HSPB1):c.21C>T (p.Pro7=) rs759998200 0.00001
NM_001540.5(HSPB1):c.294C>T (p.Ser98=) rs1294648668 0.00001
NM_001540.5(HSPB1):c.33G>C (p.Leu11=) rs199712600 0.00001
NM_001540.5(HSPB1):c.429-7C>T rs375972376 0.00001
NM_001540.5(HSPB1):c.469C>T (p.Leu157=) rs759976500 0.00001
NM_001540.5(HSPB1):c.552C>T (p.Thr184=) rs1464655270 0.00001
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846 0.00001
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.120G>A (p.Glu40=)
NM_001540.5(HSPB1):c.123G>A (p.Glu41=)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.144C>A (p.Gly48=)
NM_001540.5(HSPB1):c.144C>T (p.Gly48=)
NM_001540.5(HSPB1):c.159C>T (p.Gly53=) rs748696628
NM_001540.5(HSPB1):c.171C>T (p.Pro57=) rs887152183
NM_001540.5(HSPB1):c.177C>T (p.Pro59=)
NM_001540.5(HSPB1):c.180C>T (p.Pro60=)
NM_001540.5(HSPB1):c.183C>T (p.Ala61=)
NM_001540.5(HSPB1):c.189C>T (p.Ile63=)
NM_001540.5(HSPB1):c.18C>G (p.Val6=)
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.225C>T (p.Arg75=)
NM_001540.5(HSPB1):c.27G>T (p.Ser9=) rs1232413726
NM_001540.5(HSPB1):c.318G>A (p.Pro106=)
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.327G>A (p.Leu109=) rs112731839
NM_001540.5(HSPB1):c.364+11C>G
NM_001540.5(HSPB1):c.364+13G>A
NM_001540.5(HSPB1):c.364+13G>C rs1468075489
NM_001540.5(HSPB1):c.364+7C>T
NM_001540.5(HSPB1):c.365-10C>A
NM_001540.5(HSPB1):c.365-10C>T rs760390744
NM_001540.5(HSPB1):c.365-5C>A
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
NM_001540.5(HSPB1):c.365-6C>A rs200902768
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.372C>T (p.His124=) rs145243219
NM_001540.5(HSPB1):c.428+9T>C rs1424157184
NM_001540.5(HSPB1):c.429-16CT[2]
NM_001540.5(HSPB1):c.429-4C>T
NM_001540.5(HSPB1):c.432G>A (p.Leu144=) rs1563652837
NM_001540.5(HSPB1):c.435C>T (p.Pro145=)
NM_001540.5(HSPB1):c.459T>C (p.Val153=) rs1803068085
NM_001540.5(HSPB1):c.474C>T (p.Ser158=)
NM_001540.5(HSPB1):c.477T>G (p.Pro159=)
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.555C>T (p.Phe185=) rs533051169
NM_001540.5(HSPB1):c.609C>T (p.Ala203=)
NM_001540.5(HSPB1):c.612C>T (p.Ala204=)
NM_001540.5(HSPB1):c.75T>C (p.His25=)

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