ClinVar Miner

List of variants in gene HSPB1 studied for Inborn genetic diseases

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
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.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.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324 0.00011
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.-15G>A rs756260929 0.00004
NM_001540.5(HSPB1):c.417G>A (p.Thr139=) rs754991269 0.00004
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu) rs1433396777 0.00002
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) rs1173242313 0.00002
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn) rs147500292 0.00002
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816 0.00001
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001540.5(HSPB1):c.255C>T (p.Val85=) rs1064797336 0.00001
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022 0.00001
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser) rs767672401 0.00001
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 0.00001
NM_001540.5(HSPB1):c.84C>T (p.Leu28=) rs778672047 0.00001
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846 0.00001
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile) rs1404212306
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met) rs1803028479
NM_001540.5(HSPB1):c.2_3inv (p.Met1Thr)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.332T>G (p.Val111Gly)
NM_001540.5(HSPB1):c.364+5del
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+6C>T
NM_001540.5(HSPB1):c.365-5C>A
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.400A>C (p.Ile134Leu) rs2117161234
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.410G>A (p.Cys137Tyr)
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.44G>A (p.Ser15Asn)
NM_001540.5(HSPB1):c.456A>C (p.Gln152His)
NM_001540.5(HSPB1):c.467C>T (p.Ser156Phe)
NM_001540.5(HSPB1):c.563G>A (p.Arg188Gln)
NM_001540.5(HSPB1):c.572T>G (p.Leu191Arg)
NM_001540.5(HSPB1):c.575G>C (p.Gly192Ala)
NM_001540.5(HSPB1):c.578G>A (p.Gly193Asp)
NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.7G>C (p.Glu3Gln)
NM_001540.5(HSPB1):c.95C>T (p.Ala32Val)

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