List of variants in gene HSPB8 reported as uncertain significance for spinal muscular atrophy

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_014365.3(HSPB8):c.-201G>T	rs764259720	0.00045
NM_014365.2(HSPB8):c.-480C>G	rs886049024	0.00026
NM_014365.3(HSPB8):c.*788C>T	rs975396136	0.00021
NM_014365.3(HSPB8):c.*648A>G	rs770364674	0.00016
NM_014365.3(HSPB8):c.-314T>C	rs754447057	0.00014
NM_014365.3(HSPB8):c.*123G>A	rs987225344	0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)	rs146900850	0.00009
NM_014365.2(HSPB8):c.-419A>T	rs1011802078	0.00006
NM_014365.3(HSPB8):c.*803T>C	rs886049029	0.00005
NM_014365.3(HSPB8):c.*67T>G	rs886049026	0.00001
NM_014365.3(HSPB8):c.-172G>C	rs886049025	0.00001
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)	rs1011669872	0.00001
NM_014365.3(HSPB8):c.269C>T (p.Pro90Leu)	rs1565927080	0.00001
NM_014365.2(HSPB8):c.-489G>A	rs886049023
NM_014365.2(HSPB8):c.-522C>G	rs981936850
NM_014365.3(HSPB8):c.*330A>T	rs1954730443
NM_014365.3(HSPB8):c.*504T>C	rs886049027
NM_014365.3(HSPB8):c.*860T>C	rs1223485106
NM_014365.3(HSPB8):c.403G>C (p.Val135Leu)	rs917644809

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