ClinVar Miner

List of variants in gene RHOBTB2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_015178.3(RHOBTB2):c.1229G>A (p.Arg410Gln) rs377368156 0.00005
NM_015178.3(RHOBTB2):c.2044C>T (p.Arg682Trp) rs371598054 0.00005
NM_015178.3(RHOBTB2):c.2099G>A (p.Arg700His) rs371773374 0.00005
NM_015178.3(RHOBTB2):c.2005G>A (p.Val669Met) rs149170321 0.00003
NM_015178.3(RHOBTB2):c.1123G>A (p.Gly375Arg) rs759105470 0.00002
NM_015178.3(RHOBTB2):c.1988A>G (p.Lys663Arg) rs1811318382 0.00002
NM_015178.3(RHOBTB2):c.1022G>A (p.Arg341Gln) rs1005521110 0.00001
NM_015178.3(RHOBTB2):c.1280G>A (p.Arg427Gln) rs909105303 0.00001
NM_015178.3(RHOBTB2):c.1450G>A (p.Val484Ile) rs777766985 0.00001
NM_015178.3(RHOBTB2):c.1468G>A (p.Val490Ile) rs757772975 0.00001
NM_015178.3(RHOBTB2):c.1502-6G>C rs1273344545 0.00001
NM_015178.3(RHOBTB2):c.1619A>C (p.Glu540Ala) rs1456975037 0.00001
NM_015178.3(RHOBTB2):c.1699C>G (p.Pro567Ala) rs774689324 0.00001
NM_015178.3(RHOBTB2):c.1709A>G (p.Asp570Gly) rs1426962641 0.00001
NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile) rs1158005108 0.00001
NM_015178.3(RHOBTB2):c.1851A>T (p.Glu617Asp) rs757027463 0.00001
NM_015178.3(RHOBTB2):c.1935G>C (p.Lys645Asn) rs750180677 0.00001
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) rs767630251 0.00001
NM_015178.3(RHOBTB2):c.2056G>A (p.Glu686Lys) rs754384288 0.00001
NM_015178.3(RHOBTB2):c.242G>A (p.Arg81His) rs1290723284 0.00001
NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser) rs766119429 0.00001
NM_015178.3(RHOBTB2):c.506T>G (p.Leu169Arg) rs1218607864 0.00001
NM_015178.3(RHOBTB2):c.590A>G (p.Lys197Arg) rs746365260 0.00001
NM_015178.3(RHOBTB2):c.592G>A (p.Asp198Asn) rs780391093 0.00001
NM_015178.3(RHOBTB2):c.690G>C (p.Gln230His) rs546039464 0.00001
NM_015178.3(RHOBTB2):c.1067G>A (p.Gly356Asp) rs766921853
NM_015178.3(RHOBTB2):c.1124G>A (p.Gly375Glu)
NM_015178.3(RHOBTB2):c.1199T>C (p.Met400Thr) rs373034424
NM_015178.3(RHOBTB2):c.1288C>T (p.Leu430Phe) rs2487013292
NM_015178.3(RHOBTB2):c.1346C>T (p.Ala449Val) rs1811010315
NM_015178.3(RHOBTB2):c.1402C>A (p.Leu468Ile)
NM_015178.3(RHOBTB2):c.1627T>G (p.Phe543Val) rs755258842
NM_015178.3(RHOBTB2):c.1652T>G (p.Met551Arg)
NM_015178.3(RHOBTB2):c.1654C>T (p.Arg552Trp)
NM_015178.3(RHOBTB2):c.1684dup (p.Met562fs) rs2487028878
NM_015178.3(RHOBTB2):c.1784T>C (p.Val595Ala) rs2128807745
NM_015178.3(RHOBTB2):c.1802C>T (p.Ala601Val) rs759045497
NM_015178.3(RHOBTB2):c.1810ATG[1] (p.Met605del)
NM_015178.3(RHOBTB2):c.1837C>T (p.Leu613Phe) rs753611203
NM_015178.3(RHOBTB2):c.1923C>A (p.Asn641Lys) rs370278896
NM_015178.3(RHOBTB2):c.1933_1935delinsTAC (p.Lys645Tyr) rs2487050998
NM_015178.3(RHOBTB2):c.469C>T (p.Arg157Ter) rs1346573627
NM_015178.3(RHOBTB2):c.583G>A (p.Gly195Ser) rs778900632
NM_015178.3(RHOBTB2):c.614G>C (p.Arg205Pro)
NM_015178.3(RHOBTB2):c.739_743dup (p.Pro249fs) rs2487008669
NM_015178.3(RHOBTB2):c.757G>A (p.Glu253Lys) rs746932890
NM_015178.3(RHOBTB2):c.758A>C (p.Glu253Ala) rs768545162
NM_015178.3(RHOBTB2):c.895G>C (p.Asp299His) rs1810984734
NM_015178.3(RHOBTB2):c.920G>A (p.Gly307Asp)
NM_015178.3(RHOBTB2):c.976C>T (p.His326Tyr) rs1339416326

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