ClinVar Miner

List of variants reported as likely pathogenic for Distal hereditary motor neuronopathy type 2B

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Total variants: 6
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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.295C>A (p.Leu99Met) rs121909113
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) rs1554614648

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