List of variants in gene HNRNPU reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala)	rs1345467904	0.00001
NM_031844.3(HNRNPU):c.1018-13A>G	rs1680766348
NM_031844.3(HNRNPU):c.1029G>C (p.Lys343Asn)
NM_031844.3(HNRNPU):c.1061T>C (p.Ile354Thr)
NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del)	rs2102987167
NM_031844.3(HNRNPU):c.1387G>C (p.Glu463Gln)
NM_031844.3(HNRNPU):c.1411G>A (p.Glu471Lys)	rs775402274
NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln)	rs2102986610
NM_031844.3(HNRNPU):c.1544C>T (p.Thr515Ile)	rs1411908199
NM_031844.3(HNRNPU):c.158T>C (p.Met53Thr)
NM_031844.3(HNRNPU):c.1856A>G (p.Lys619Arg)
NM_031844.3(HNRNPU):c.1865_1867del (p.Glu622del)	rs1553282322
NM_031844.3(HNRNPU):c.1895C>A (p.Ala632Glu)	rs868735439
NM_031844.3(HNRNPU):c.2119A>G (p.Arg707Gly)	rs2102985342
NM_031844.3(HNRNPU):c.226C>G (p.Gln76Glu)
NM_031844.3(HNRNPU):c.2351A>C (p.Gln784Pro)	rs2102984930
NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His)	rs1064796325
NM_031844.3(HNRNPU):c.266_283dup (p.Glu89_Glu94dup)	rs1558190683
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala)	rs1680928684
NM_031844.3(HNRNPU):c.386A>G (p.Glu129Gly)
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp)	rs1325726632
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	rs779453109
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs)	rs754216321
NM_031844.3(HNRNPU):c.691+1G>A
NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del)	rs747301226
NM_031844.3(HNRNPU):c.994G>A (p.Gly332Ser)

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