ClinVar Miner

List of variants in gene HBA2, LOC106804612 studied for hemolytic anemia

Included ClinVar conditions (105):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.96-2A>G rs41457746 0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.149_150del (p.Ser50fs)
NM_000517.6(HBA2):c.199C>A (p.Leu67Met) rs1280121011
NM_000517.6(HBA2):c.1A>G (p.Met1Val) rs121909803
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln) rs41323248
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg) rs41323248
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile) rs2142017990
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) rs1263969213
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile) rs281864488
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
NM_000517.6(HBA2):c.47del (p.Gly16fs)
NM_000517.6(HBA2):c.48dup (p.Lys17Ter)
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.82_83insT (p.Glu28fs)
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000517.6(HBA2):c.98T>C (p.Met33Thr)

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