ClinVar Miner

List of variants in gene RBM10 studied for Inborn genetic diseases

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_005676.5(RBM10):c.1421A>T (p.Asp474Val) rs782007244 0.00014
NM_005676.5(RBM10):c.274G>A (p.Gly92Ser) rs372162654 0.00013
NM_005676.5(RBM10):c.1445C>G (p.Ala482Gly) rs147041092 0.00008
NM_005676.5(RBM10):c.1705G>A (p.Val569Ile) rs782440714 0.00007
NM_005676.5(RBM10):c.251G>A (p.Arg84Gln) rs782227221 0.00005
NM_005676.5(RBM10):c.115A>G (p.Met39Val) rs1180874041 0.00004
NM_005676.5(RBM10):c.2563G>A (p.Gly855Arg) rs782323783 0.00003
NM_005676.5(RBM10):c.137G>A (p.Arg46His) rs782523524 0.00002
NM_005676.5(RBM10):c.221C>T (p.Pro74Leu) rs782698715 0.00002
NM_005676.5(RBM10):c.2726C>G (p.Thr909Ser) rs2521262237 0.00002
NM_005676.5(RBM10):c.457G>A (p.Gly153Ser) rs1198280152 0.00002
NM_005676.5(RBM10):c.1465G>A (p.Asp489Asn) rs781946397 0.00001
NM_005676.5(RBM10):c.1719G>C (p.Gln573His) rs1388916261 0.00001
NM_005676.5(RBM10):c.1877A>G (p.His626Arg) rs782123058 0.00001
NM_005676.5(RBM10):c.2177G>A (p.Arg726Gln) rs1556781820 0.00001
NM_005676.5(RBM10):c.218C>T (p.Ser73Phe) rs2147134658 0.00001
NM_005676.5(RBM10):c.2431-3C>A rs1556782354 0.00001
NM_005676.5(RBM10):c.918C>G (p.Asn306Lys) rs1447246696 0.00001
NM_005676.5(RBM10):c.1100A>C (p.His367Pro) rs1556778373
NM_005676.5(RBM10):c.133C>A (p.Pro45Thr) rs782797549
NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs) rs1131690789
NM_005676.5(RBM10):c.1463C>T (p.Ala488Val)
NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs) rs1556779417
NM_005676.5(RBM10):c.189G>T (p.Glu63Asp) rs2147129754
NM_005676.5(RBM10):c.2125A>C (p.Thr709Pro) rs2521156512
NM_005676.5(RBM10):c.242GGC[4] (p.Arg85del) rs781998738
NM_005676.5(RBM10):c.2485G>A (p.Glu829Lys) rs2147223252
NM_005676.5(RBM10):c.262C>T (p.His88Tyr)
NM_005676.5(RBM10):c.2671C>A (p.Gln891Lys)
NM_005676.5(RBM10):c.2705G>A (p.Arg902Gln)
NM_005676.5(RBM10):c.2755C>T (p.His919Tyr) rs202039165
NM_005676.5(RBM10):c.358G>A (p.Asp120Asn)
NM_005676.5(RBM10):c.437G>T (p.Arg146Leu)

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