ClinVar Miner

List of variants in gene HBA1, LOC106804613 studied for alpha Thalassemia

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
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.96-1G>A rs34883113 0.00017
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.301-9T>C rs368241947 0.00013
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
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_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NC_000016.10:g.176177_176301del rs1902124319
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_000558.4(HBA1):c.-286C>G
NM_000558.5(HBA1):c.-37A>C
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg) rs281864895
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.188_190del (p.Val63del) rs35672478
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.257A>T (p.Asp86Val) rs1902160217
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.2T>G (p.Met1Arg) rs1316527998
NM_000558.5(HBA1):c.2del (p.Met1fs) rs1298047912
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.396dup (p.Val133fs) rs34021271
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) rs33964317
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507

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