List of variants in gene SPTBN2 reported as uncertain significance for autosomal recessive disease

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1654-13G>A	rs200980512	0.00134
NM_006946.4(SPTBN2):c.4985+12G>A	rs199692345	0.00098
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	rs141683210	0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	rs147766428	0.00056
NM_006946.4(SPTBN2):c.-22-10C>A	rs200435327	0.00054
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)	rs148065361	0.00031
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)	rs764407421	0.00028
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)	rs558572111	0.00011
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)	rs190532690	0.00010
NM_006946.4(SPTBN2):c.5950-9C>T	rs554781314	0.00008
NM_006946.4(SPTBN2):c.1653+13C>T	rs376349935	0.00006
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val)	rs757932120	0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)	rs200016211	0.00005
NM_006946.4(SPTBN2):c.6035-12C>T	rs2276137	0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)	rs773129687	0.00004
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu)	rs750934185	0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)	rs778388054	0.00003
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)	rs746195427	0.00002
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)	rs372938259	0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)	rs145702618	0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr)	rs752677090	0.00001
NM_006946.4(SPTBN2):c.6374+15G>A	rs777633339	0.00001
NM_006946.4(SPTBN2):c.6502-9C>T	rs545190212	0.00001
NM_006946.4(SPTBN2):c.657-7C>G	rs758925003	0.00001
NM_006946.4(SPTBN2):c.6723-11G>A	rs758435668	0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)	rs750623875	0.00001
NM_006946.4(SPTBN2):c.6897-4A>G	rs1262014282	0.00001
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro)	rs1590954146
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)	rs1402216317
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly)	rs368373337
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)

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