ClinVar Miner

List of variants in gene RARB studied for Matthew-Wood syndrome

Included ClinVar conditions (16):
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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000965.5(RARB):c.306+19G>A rs77748152 0.04069
NM_000965.5(RARB):c.1155A>G (p.Ala385=) rs61733682 0.01990
NM_000965.5(RARB):c.920A>C (p.Asn307Thr) rs146757345 0.00053
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_000965.5(RARB):c.270G>A (p.Gly90=) rs116825683 0.00036
NM_000965.5(RARB):c.787-18A>G rs188860314 0.00012
NM_000965.5(RARB):c.741C>T (p.Ile247=) rs139584096 0.00011
NM_000965.5(RARB):c.264A>T (p.Ser88=) rs201295268 0.00006
NM_000965.5(RARB):c.991+10A>G rs772873447 0.00004
NM_000965.5(RARB):c.288C>T (p.Ser96=) rs138872395 0.00003
NM_000965.5(RARB):c.960C>A (p.Gly320=) rs775637491 0.00003
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr) rs368432868 0.00002
NM_000965.5(RARB):c.1038A>G (p.Glu346=) rs760433691 0.00001
NM_000965.5(RARB):c.410G>A (p.Arg137Gln) rs1387195672 0.00001
NC_000003.12:g.(?_25569738)_(25596636_?)dup
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) rs1701834292
NM_000965.5(RARB):c.1159C>A (p.Arg387Ser) rs397518483
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter) rs1575553528
NM_000965.5(RARB):c.1181A>G (p.Glu394Gly) rs2125330280
NM_000965.5(RARB):c.1193C>G (p.Ser398Ter) rs1701836507
NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs) rs397518482
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_000965.5(RARB):c.1211A>C (p.Gln404Pro) rs1559485305
NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)
NM_000965.5(RARB):c.157+1895G>A
NM_000965.5(RARB):c.158-15C>A rs374770716
NM_000965.5(RARB):c.158-1G>A
NM_000965.5(RARB):c.158-7A>G
NM_000965.5(RARB):c.158-9C>G rs78470280
NM_000965.5(RARB):c.224dup (p.Arg76fs) rs1695165531
NM_000965.5(RARB):c.306+7A>G
NM_000965.5(RARB):c.355C>T (p.Arg119Ter) rs397518481
NM_000965.5(RARB):c.409C>T (p.Arg137Ter) rs1553624279
NM_000965.5(RARB):c.545A>G (p.Glu182Gly)
NM_000965.5(RARB):c.602A>G (p.Tyr201Cys)
NM_000965.5(RARB):c.634C>T (p.Arg212Ter)
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_000965.5(RARB):c.646G>A (p.Gly216Ser)
NM_000965.5(RARB):c.683G>T (p.Cys228Phe)
NM_000965.5(RARB):c.806G>C (p.Arg269Thr) rs1701696076
NM_000965.5(RARB):c.835T>G (p.Phe279Val) rs1701696937
NM_000965.5(RARB):c.836T>C (p.Phe279Ser) rs1701697098
NM_000965.5(RARB):c.841G>T (p.Asp281Tyr) rs1701697256
NM_000965.5(RARB):c.851C>T (p.Thr284Ile) rs1575550287
NM_000965.5(RARB):c.872A>T (p.His291Leu) rs1553637470
NM_000965.5(RARB):c.881G>T (p.Gly294Val) rs2125325458
NM_000965.5(RARB):c.887G>C (p.Gly296Ala) rs869025221
NM_000965.5(RARB):c.991+11T>C

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