List of variants in gene HNRNPU reported as likely pathogenic for complex neurodevelopmental disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.(?_245025750)_(245027576_?)del
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
NM_031844.3(HNRNPU):c.1117+1G>C	rs1558188078
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp)	rs2102987181
NM_031844.3(HNRNPU):c.1230+5G>A	rs1553282723
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del)	rs1680716624
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs)	rs1135401794
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter)
NM_031844.3(HNRNPU):c.1743+1G>A	rs2102985855
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)
NM_031844.3(HNRNPU):c.2072del (p.Asn691fs)
NM_031844.3(HNRNPU):c.2168-1del	rs2102985115
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)	rs794729648
NM_031844.3(HNRNPU):c.2425-2A>T	rs1553281924
NM_031844.3(HNRNPU):c.2425-3C>A
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)	rs1553283916
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter)	rs1573337948
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter)
NM_031844.3(HNRNPU):c.520del (p.Gln174fs)	rs2102990594
NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)	rs754216321
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)	rs869312701
NM_031844.3(HNRNPU):c.803+2T>C	rs112081356
NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs)	rs2102989374
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs)
Single allele

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