ClinVar Miner

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

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000007.14:g.76302657C>T
NM_001540.4(HSPB1):c.-46C>T rs35907174
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
NM_001540.5(HSPB1):c.365-7C>T
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
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.9G>A (p.Glu3=) rs77586767

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