ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp) rs200956071 0.00005
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile) rs774816936 0.00004
NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn) rs770892589 0.00002
NM_006946.4(SPTBN2):c.971C>T (p.Thr324Met) rs766259767 0.00002
NM_006946.4(SPTBN2):c.1701G>A (p.Glu567=) rs1380619480 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.5064G>A (p.Glu1688=) rs794727404 0.00001
NM_006946.4(SPTBN2):c.2623C>T (p.Leu875Phe) rs906936058
NM_006946.4(SPTBN2):c.6502-5C>T rs549378554

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