List of variants in gene SPTBN2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)	rs4930388	0.98751
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)	rs506028	0.15920
NM_006946.4(SPTBN2):c.1221C>T (p.His407=)	rs143596433	0.00212
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)	rs150610657	0.00012
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)	rs145522851	0.00011
NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp)	rs200956071	0.00005
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)	rs764447133	0.00002
NM_006946.4(SPTBN2):c.1246G>A (p.Glu416Lys)	rs747373105	0.00001
NM_006946.4(SPTBN2):c.4931T>C (p.Ile1644Thr)	rs1372277094	0.00001

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