ClinVar Miner

List of variants in gene SPTBN2 reported as likely benign for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_006946.4(SPTBN2):c.*364C>T rs11828658 0.01074
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_006946.4(SPTBN2):c.*546T>C rs539068045 0.00285
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747

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