ClinVar Miner

List of variants in gene HSPB8 reported as 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: 14
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HGVS dbSNP
NM_014365.2(HSPB8):c.*440C>G rs13378054
NM_014365.2(HSPB8):c.*581G>A rs56754798
NM_014365.2(HSPB8):c.*616C>G rs6413487
NM_014365.2(HSPB8):c.*616C>T rs6413487
NM_014365.2(HSPB8):c.*644A>G rs11038
NM_014365.2(HSPB8):c.*684G>A rs1133026
NM_014365.2(HSPB8):c.-193T>C rs11549401
NM_014365.2(HSPB8):c.-457A>G rs564088535
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542

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