List of variants reported as uncertain significance for Trichohepatoenteric syndrome by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002904.6(NELFE):c.-30C>A	rs182142262	0.00631
NM_002904.6(NELFE):c.-61G>C	rs546698443	0.00115
NM_002904.6(NELFE):c.-37C>T	rs886061298	0.00011
NM_006929.4(SKIC2):c.-195C>T	rs886061301	0.00006
NM_006929.4(SKIC2):c.-22A>T	rs755276769	0.00006
NM_002904.6(NELFE):c.-86C>T	rs886061300	0.00003
NM_006929.4(SKIC2):c.-43T>C	rs886061303	0.00001
NM_002904.6(NELFE):c.-41A>G	rs886061299
NM_006929.4(SKIC2):c.-193A>C	rs886061302

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