ClinVar Miner

List of variants in gene HSPB1 studied for Charcot-Marie-Tooth disease

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
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.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941 0.00005
NM_001540.5(HSPB1):c.-15G>A rs756260929 0.00004
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351 0.00004
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001540.5(HSPB1):c.349G>A (p.Val117Met) rs1803031652 0.00001
NM_001540.5(HSPB1):c.365-13C>T rs767168094 0.00001
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) rs1240900244 0.00001
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023 0.00001
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) rs772767500 0.00001
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 0.00001
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306 0.00001
NM_001540.5(HSPB1):c.*20A>C rs775953415
NM_001540.5(HSPB1):c.-5C>T rs948469224
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) rs1554614432
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro) rs372197630
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) rs769118115
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) rs1583964560
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del rs1803032779
NM_001540.5(HSPB1):c.365-5dup rs759570569
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr) rs1455898327
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) rs1032400275
NM_001540.5(HSPB1):c.505del (p.Met169fs) rs1583966508
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772

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