ClinVar Miner

List of variants in gene HSPB8 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val)
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys)
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu)
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe)
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr)
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680

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