List of variants in gene HSPB1 reported as benign for spinal muscular atrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001540.5(HSPB1):c.*11C>T	rs1058872	0.02598
NM_001540.4(HSPB1):c.-46C>T	rs35907174	0.00569
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)	rs145369859	0.00486
NM_001540.4(HSPB1):c.-56C>T	rs35759978	0.00306
NM_001540.5(HSPB1):c.*22C>T	rs557532119	0.00300
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)	rs61751217	0.00153
NM_001540.5(HSPB1):c.-19C>T	rs199602956	0.00149
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)	rs201769668	0.00024
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)	rs140791936	0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)	rs529095936	0.00007
NM_001540.5(HSPB1):c.-4C>T	rs372833436	0.00005
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)	rs558882005	0.00003
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)	rs765197724
NM_001540.5(HSPB1):c.365-6C>G	rs200902768
NM_001540.5(HSPB1):c.365-7C>T	rs201897299
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)	rs367857772

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