ClinVar Miner

List of variants in gene HSPB1 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001540.5(HSPB1):c.*20A>C
NM_001540.5(HSPB1):c.*22C>T
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.339C>G (p.Thr113=) rs751064405
NM_001540.5(HSPB1):c.364+10C>A rs577343607
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.428+13G>T
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767

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