ClinVar Miner

List of variants studied for alpha Thalassemia by Natera, Inc.

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.-43G>C rs71382271 1.00000
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789 0.00085
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.301-9T>C rs368241947 0.00013
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.6(HBA2):c.*47G>A rs4021971
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys) rs281864819
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys) rs1902038723
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly) rs281864823
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.257A>T (p.Asp86Val) rs1902160217

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