ClinVar Miner

List of variants in gene HBA2, LOC106804612 studied for hematologic disorder

Included ClinVar conditions (819):
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Gene type:
ClinVar version:
Total variants: 80
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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_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
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.143del (p.Asp48fs) rs281864539 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
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.178G>C (p.Gly60Arg) rs41328049 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.349G>T (p.Glu117Ter) rs33987053 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_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NC_000016.10:g.172832C>A rs1596569257
NM_000517.4(HBA2):c.-157C>T
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*108G>A
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.-181C>G
NM_000517.6(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn) rs33985574
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.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln) rs41323248
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) 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.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000517.6(HBA2):c.245C>T (p.Ser82Phe) rs281864864
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.266C>T (p.Ala89Val) rs33983416
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.300+1G>A
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
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.320T>G (p.Leu107Arg)
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) rs41479844
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala) rs1262943621
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) rs41397847
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile) rs281864488
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu) rs41361546
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys) rs281864811
NM_000517.6(HBA2):c.54del (p.Gly19fs) rs1902037470
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys) rs281864819
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp) rs281864821
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.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.94_95del (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+11_95+34del rs1445188229
NM_000517.6(HBA2):c.95+2_95+6del rs41474145

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