List of variants reported as uncertain significance by NxGen MDx

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	rs139486832	0.00022
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)	rs397508395	0.00013
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe)	rs148357203	0.00001
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)	rs387906253
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)	rs1314376649

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