List of variants in gene SPTBN1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_003128.3(SPTBN1):c.3107G>A (p.Arg1036Gln)	rs139622861	0.00007
NM_003128.3(SPTBN1):c.7015G>A (p.Glu2339Lys)	rs763496837	0.00002
NM_003128.3(SPTBN1):c.1072G>A (p.Glu358Lys)	rs2549515583	0.00001
NM_003128.3(SPTBN1):c.1792G>A (p.Gly598Arg)	rs765805170	0.00001
NM_003128.3(SPTBN1):c.1063A>G (p.Lys355Glu)	rs2549513931
NM_003128.3(SPTBN1):c.130C>T (p.Arg44Cys)	rs2104324419
NM_003128.3(SPTBN1):c.1360C>T (p.Leu454Phe)	rs201571724
NM_003128.3(SPTBN1):c.1492C>T (p.Arg498Cys)	rs1678303092
NM_003128.3(SPTBN1):c.2497_2498delinsTT (p.Glu833Leu)
NM_003128.3(SPTBN1):c.2873A>G (p.Gln958Arg)
NM_003128.3(SPTBN1):c.32A>G (p.Asn11Ser)	rs1670821258
NM_003128.3(SPTBN1):c.330C>G (p.Ile110Met)	rs2549494517
NM_003128.3(SPTBN1):c.3360G>T (p.Lys1120Asn)
NM_003128.3(SPTBN1):c.3422G>A (p.Arg1141Gln)
NM_003128.3(SPTBN1):c.3784G>C (p.Glu1262Gln)
NM_003128.3(SPTBN1):c.5516T>C (p.Val1839Ala)	rs2549563120
NM_003128.3(SPTBN1):c.5773C>T (p.Leu1925Phe)	rs1314377849
NM_003128.3(SPTBN1):c.6973C>T (p.Arg2325Cys)

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