ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive spinocerebellar ataxia 14 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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.-22-10C>A rs200435327 0.00054
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.6035-12C>T rs2276137 0.00004
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.6897-4A>G rs1262014282 0.00001

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