ClinVar Miner

List of variants studied for Human HOXA1 syndromes

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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.*1090C>T rs7786554 0.00620
NM_005522.5(HOXA1):c.174G>C (p.Gly58=) rs77832452 0.00476
NM_005522.5(HOXA1):c.210C>T (p.His70=) rs199620262 0.00039
NM_005522.5(HOXA1):c.*980C>G rs777986191 0.00019
NM_005522.5(HOXA1):c.*1437A>G rs569968863 0.00018
NM_005522.4(HOXA1):c.-90A>G rs981104456 0.00012
NM_005522.5(HOXA1):c.216T>C (p.His72=) rs886062260 0.00005
NM_005522.5(HOXA1):c.*345C>T rs557113073 0.00003
NM_005522.5(HOXA1):c.*337G>A rs576914419 0.00001
NM_005522.5(HOXA1):c.686C>A (p.Pro229His) rs759032142 0.00001
NM_005522.5(HOXA1):c.813C>T (p.Thr271=) rs1435619628 0.00001
NM_005522.4(HOXA1):c.-89T>C rs1783820241
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.-86C>A rs964954049
NM_005522.5(HOXA1):c.122C>T (p.Ala41Val) rs1783812000
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
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.669C>A (p.Tyr223Ter) rs769512832
NM_005522.5(HOXA1):c.76C>T (p.Arg26Ter) rs104894018
NM_005522.5(HOXA1):c.806A>G (p.Asn269Ser)

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