ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as other

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Total variants: 59
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HGVS dbSNP gnomAD frequency
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_000517.4(HBA2):c.80C>T (p.Ala27Val) rs281864822 0.00002
NM_000517.4(HBA2):c.272A>G (p.Lys91Arg) rs281864873 0.00001
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.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.4(HBA2):c.113C>T (p.Pro38Leu) rs281864826
NM_000517.4(HBA2):c.142G>T (p.Asp48Tyr) rs281864834
NM_000517.4(HBA2):c.217C>G (p.His73Asp) rs281864855
NM_000517.4(HBA2):c.227A>T (p.Asp76Val) rs281864859
NM_000517.4(HBA2):c.233C>A (p.Pro78His) rs281864861
NM_000517.4(HBA2):c.286C>T (p.Pro96Ser) rs281864881
NM_000517.4(HBA2):c.341T>G (p.Leu114Arg) rs281860618
NM_000517.4(HBA2):c.402C>A (p.Ser134Arg) rs41514946
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.47G>A (p.Gly16Asp) rs34956202
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.4(HBA2):c.61C>G (p.His21Asp) rs281864814
NM_000517.4(HBA2):c.83A>T (p.Glu28Val) rs281864823
NM_000517.6(HBA2):c.101T>C (p.Phe34Ser) rs41430445
NM_000517.6(HBA2):c.106T>C (p.Ser36Pro) rs63750776
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.167T>C (p.Val56Ala) rs63749934
NM_000517.6(HBA2):c.177C>A (p.His59Gln) rs41378349
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.187G>A (p.Val63Met) rs41515649
NM_000517.6(HBA2):c.196G>A (p.Ala66Thr) rs41510746
NM_000517.6(HBA2):c.19_21del (p.Asp7del) rs34623271
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) rs41323248
NM_000517.6(HBA2):c.207C>R (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.208G>A (p.Ala70Thr) rs63749997
NM_000517.6(HBA2):c.223GAC[1] (p.Asp76del) rs63750943
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.235A>C (p.Asn79His) rs111033602
NM_000517.6(HBA2):c.241C>G (p.Leu81Val) rs41466346
NM_000517.6(HBA2):c.244T>C (p.Ser82Pro) rs41484451
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.301-1G>A rs587776827
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.310C>T (p.His104Tyr) rs63750073
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) rs41479844
NM_000517.6(HBA2):c.332C>T (p.Ala111Val) rs28928889
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.418A>G (p.Lys140Glu) rs41361546
NM_000517.6(HBA2):c.420A>C (p.Lys140Asn) rs41393644
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.423C>A (p.Tyr141Ter) rs41507451
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.5T>G (p.Val2Gly) rs33981821
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.91G>C (p.Glu31Gln) rs111033605
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560

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