ClinVar Miner

List of variants in gene HNRNPR studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005826.5(HNRNPR):c.1168-4A>G rs202076745 0.00052
NM_005826.5(HNRNPR):c.1336A>G (p.Ile446Val) rs201330041 0.00017
NM_005826.5(HNRNPR):c.1660A>G (p.Arg554Gly) rs369249193 0.00006
NM_005826.5(HNRNPR):c.1088A>G (p.Glu363Gly) rs954695400 0.00001
NM_005826.5(HNRNPR):c.1526G>A (p.Arg509Gln) rs1314276372 0.00001
NM_005826.5(HNRNPR):c.1675C>T (p.Arg559Cys) rs150851244 0.00001
NM_005826.5(HNRNPR):c.673C>G (p.Leu225Val) rs1357424654 0.00001
NM_005826.5(HNRNPR):c.94A>T (p.Thr32Ser) rs1646683671 0.00001
NM_005826.5(HNRNPR):c.102A>G (p.Ile34Met)
NM_005826.5(HNRNPR):c.1048A>T (p.Thr350Ser) rs1159352584
NM_005826.5(HNRNPR):c.1166A>G (p.Lys389Arg)
NM_005826.5(HNRNPR):c.1289C>G (p.Ala430Gly) rs180897497
NM_005826.5(HNRNPR):c.1358G>C (p.Gly453Ala)
NM_005826.5(HNRNPR):c.1447C>T (p.Arg483Cys)
NM_005826.5(HNRNPR):c.1487G>T (p.Gly496Val)
NM_005826.5(HNRNPR):c.148T>C (p.Phe50Leu)
NM_005826.5(HNRNPR):c.1599_1600dup (p.Ala534fs) rs35459559
NM_005826.5(HNRNPR):c.1600G>T (p.Ala534Ser) rs761005559
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter) rs1553153365
NM_005826.5(HNRNPR):c.170A>T (p.Tyr57Phe) rs766009134
NM_005826.5(HNRNPR):c.1831T>G (p.Ser611Ala)
NM_005826.5(HNRNPR):c.356C>T (p.Thr119Ile)
NM_005826.5(HNRNPR):c.373G>A (p.Ala125Thr)
NM_005826.5(HNRNPR):c.382A>G (p.Lys128Glu)
NM_005826.5(HNRNPR):c.386C>T (p.Ala129Val)
NM_005826.5(HNRNPR):c.475G>A (p.Val159Met)
NM_005826.5(HNRNPR):c.683G>A (p.Ser228Asn) rs1406065184
NM_005826.5(HNRNPR):c.910_911dup (p.Gln304fs) rs2523841703
NM_005826.5(HNRNPR):c.95C>T (p.Thr32Ile) rs2524472021

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