List of variants in gene SPTBN2 reported as likely pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	rs1554986345
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)	rs797046006
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn)	rs2135526299
NM_006946.4(SPTBN2):c.3869T>G (p.Leu1290Arg)	rs1085307915
NM_006946.4(SPTBN2):c.4495G>C (p.Asp1499His)	rs1064795665
NM_006946.4(SPTBN2):c.4961T>C (p.Met1654Thr)
NM_006946.4(SPTBN2):c.532G>A (p.Ala178Thr)	rs1057524761
NM_006946.4(SPTBN2):c.793G>C (p.Asp265His)	rs2135491492

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