ClinVar Miner

List of variants reported as likely pathogenic by Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon

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Total variants: 5
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HGVS dbSNP
NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser) rs1563651698
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_014365.2(HSPB8):c.413A>C (p.Asn138Thr) rs1565929080

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