ClinVar Miner

List of variants in gene HNRNPU reported as pathogenic for not provided

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_031844.3(HNRNPU):c.1118-7_1118-3del rs1064796710
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter) rs1553282635
NM_031844.3(HNRNPU):c.1518del (p.Gly507fs) rs1064797011
NM_031844.3(HNRNPU):c.165del (p.Asn57fs) rs1680936726
NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter) rs1553282390
NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter) rs1553282385
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) rs1680684866
NM_031844.3(HNRNPU):c.1913-1G>A rs1680675492
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.2168-1G>T rs2102985114
NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) rs1135401734
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_031844.3(HNRNPU):c.253dup (p.Glu85fs) rs1553283982
NM_031844.3(HNRNPU):c.316_322del (p.Leu106fs) rs1553283946
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031844.3(HNRNPU):c.550_571dup (p.Thr191fs) rs1064794823
NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) rs1057520065
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs) rs1553283444
NM_031844.3(HNRNPU):c.817C>T (p.Gln273Ter)

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