ClinVar Miner

List of variants in gene HNRNPU reported as pathogenic by Invitae

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.(?_244860315)_(244862750_?)del
NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val)
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs)
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) rs1553282754
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) rs2102987155
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) rs1680727391
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs)
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.1749del (p.Asn583fs)
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr)
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) rs2102985018
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter)
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) rs2102984978
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) rs1553283951
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) rs1680930166
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs)
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
NM_031844.3(HNRNPU):c.484del (p.Gln162fs) rs1553283895
NM_031844.3(HNRNPU):c.562_577del (p.Ser188fs) rs2102990539
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs)
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs)
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) rs754216321
NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs)
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs)
NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs)
NM_031844.3(HNRNPU):c.79del (p.Asp27fs)
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs)

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