ClinVar Miner

List of variants in gene HOXA1 reported as uncertain significance for human HOXA1 syndromes

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
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.207C>T (p.His69=) rs577426612 0.00058
NM_005522.5(HOXA1):c.194A>C (p.His65Pro) rs146782650 0.00040
NM_005522.5(HOXA1):c.210C>T (p.His70=) rs199620262 0.00039
NM_005522.5(HOXA1):c.741G>A (p.Glu247=) rs143597165 0.00033
NM_005522.5(HOXA1):c.*980C>G rs777986191 0.00019
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.*345C>T rs557113073 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.*337G>A rs576914419 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.686C>A (p.Pro229His) rs759032142 0.00001
NM_005522.5(HOXA1):c.691G>A (p.Ala231Thr) rs779419910 0.00001
NM_005522.5(HOXA1):c.813C>T (p.Thr271=) rs1435619628 0.00001
NM_005522.5(HOXA1):c.825C>T (p.Ile275=) rs886062257 0.00001
NM_005522.5(HOXA1):c.*1058T>A rs1311098639
NM_005522.5(HOXA1):c.*183G>A rs186304469
NM_005522.5(HOXA1):c.*183G>C rs186304469
NM_005522.5(HOXA1):c.*232G>A rs1783762321
NM_005522.5(HOXA1):c.*281C>G rs1783761584
NM_005522.5(HOXA1):c.*820A>G rs1336175696
NM_005522.5(HOXA1):c.-26C>A rs764712990
NM_005522.5(HOXA1):c.122C>T (p.Ala41Val) rs1783812000
NM_005522.5(HOXA1):c.165G>A (p.Val55=) rs886062261
NM_005522.5(HOXA1):c.255C>G (p.Asn85Lys) rs886062259
NM_005522.5(HOXA1):c.294C>G (p.Ser98Arg) rs377149193
NM_005522.5(HOXA1):c.63G>A (p.Gly21=) rs1331715096
NM_005522.5(HOXA1):c.653-12A>G rs761281990
NM_005522.5(HOXA1):c.71C>T (p.Ser24Leu) rs886062262

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