List of variants in gene SPTBN4 reported as benign for neurodevelopmental disorder with hypotonia, neuropathy, and deafness

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_020971.3(SPTBN4):c.7494-24G>C	rs1165841	0.60392
NM_020971.3(SPTBN4):c.7026+30G>C	rs1165837	0.53878
NM_020971.3(SPTBN4):c.3858-36G>A	rs1461008	0.46250
NM_020971.3(SPTBN4):c.3991G>A (p.Gly1331Ser)	rs814501	0.46119
NM_020971.3(SPTBN4):c.7320-34C>T	rs8101070	0.43337
NM_020971.3(SPTBN4):c.1713C>T (p.Asp571=)	rs7258094	0.23149
NM_020971.3(SPTBN4):c.2136A>G (p.Arg712=)	rs814533	0.21153
NM_020971.3(SPTBN4):c.112G>A (p.Ala38Thr)	rs73931308	0.18682
NM_020971.3(SPTBN4):c.1665+8C>G	rs843779
NM_020971.3(SPTBN4):c.785-29_785-28del	rs75996882
NM_020971.3(SPTBN4):c.912A>G (p.Val304=)	rs814526

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