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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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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