ClinVar Miner

List of variants studied for Bosley-Salih-Alorainy syndrome

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_005522.5(HOXA1):c.*56C>A rs56012816 0.07244
NM_006735.4(HOXA2):c.*108C>T rs117630421 0.03326
NM_005522.5(HOXA1):c.213C>T (p.His71=) rs2074398 0.02428
NM_005522.5(HOXA1):c.436C>A (p.His146Asn) rs45571645 0.01487
NM_005522.5(HOXA1):c.*470T>A rs73683592 0.00984
NM_005522.5(HOXA1):c.*1345T>C rs114796827 0.00781
NM_005522.5(HOXA1):c.*181G>A rs145102625 0.00506
NM_005522.5(HOXA1):c.*563G>C rs117011404 0.00502
NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala) rs17500494 0.00340
NM_005522.5(HOXA1):c.*907A>G rs76826100 0.00239
NM_005522.5(HOXA1):c.207C>T (p.His69=) rs577426612 0.00058
NM_005522.5(HOXA1):c.194A>C (p.His65Pro) rs146782650 0.00040
NM_005522.5(HOXA1):c.741G>A (p.Glu247=) rs143597165 0.00033
NM_005522.5(HOXA1):c.435C>T (p.His145=) rs200448150 0.00016
NM_005522.5(HOXA1):c.549C>A (p.Leu183=) rs778780253 0.00010
NM_005522.5(HOXA1):c.*1387C>G rs558870068 0.00006
NM_005522.5(HOXA1):c.216T>C (p.His72=) rs886062260 0.00005
NM_005522.5(HOXA1):c.*250G>C rs886062256 0.00003
NM_005522.5(HOXA1):c.*331C>A rs886062255 0.00003
NM_005522.5(HOXA1):c.552C>A (p.His184Gln) rs768265195 0.00003
NM_005522.5(HOXA1):c.*1150C>T rs886062254 0.00001
NM_005522.5(HOXA1):c.*953G>A rs528003903 0.00001
NM_005522.5(HOXA1):c.196C>T (p.His66Tyr) rs777153568 0.00001
NM_005522.5(HOXA1):c.546T>C (p.Pro182=) rs886062258 0.00001
NM_005522.5(HOXA1):c.691G>A (p.Ala231Thr) rs779419910 0.00001
NM_005522.5(HOXA1):c.825C>T (p.Ile275=) rs886062257 0.00001
NM_005522.5(HOXA1):c.*183G>A rs186304469
NM_005522.5(HOXA1):c.165G>A (p.Val55=) rs886062261
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005522.5(HOXA1):c.185del (p.Gly62fs) rs1562700083
NM_005522.5(HOXA1):c.255C>G (p.Asn85Lys) rs886062259
NM_005522.5(HOXA1):c.653-12A>G rs761281990
NM_005522.5(HOXA1):c.71C>T (p.Ser24Leu) rs886062262
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter) rs104894017

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