ClinVar Miner

List of variants in gene HSPB1 reported as benign for Charcot-Marie-Tooth disease axonal type 2F

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_001540.4(HSPB1):c.-46C>T rs35907174 0.00569
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_001540.4(HSPB1):c.-56C>T rs35759978 0.00306
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.399C>T (p.Tyr133=) rs140791936 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 0.00001
NM_001540.5(HSPB1):c.364+11dup rs773836576
NM_001540.5(HSPB1):c.365-5dup rs759570569
NM_001540.5(HSPB1):c.365-7C>T rs201897299

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