ClinVar Miner

List of variants in gene HSPB1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile) rs1404212306
NM_001540.5(HSPB1):c.19C>G (p.Pro7Ala)
NM_001540.5(HSPB1):c.20C>T (p.Pro7Leu) rs1405359814
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.394G>A (p.Gly132Ser) rs1554614641
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala) rs1158758405
NM_001540.5(HSPB1):c.496G>C (p.Glu166Gln) rs1803069432
NM_001540.5(HSPB1):c.529A>T (p.Asn177Tyr)

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