ClinVar Miner

List of variants in gene HNRNPU reported as not provided for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) rs778010676 0.00003
GRCh37/hg19 1q44(chr1:245016933-245028969)x1
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_031844.3(HNRNPU):c.508C>T (p.Gln170Ter) rs2102990610
NM_031844.3(HNRNPU):c.590C>T (p.Thr197Met)
NM_031844.3(HNRNPU):c.81_82del (p.Asp27fs)

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