List of variants in gene HSPB1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)	rs557327165
NM_001540.5(HSPB1):c.172del (p.Leu58fs)	rs768456339
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	rs863225022
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	rs28937568

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