ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.95+27C>T rs558457816 0.00531
NM_000517.6(HBA2):c.300+64A>G rs111264741 0.00257
NM_000517.6(HBA2):c.95+39C>G rs1025977498 0.00040
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000517.6(HBA2):c.95+36C>T rs1455019991 0.00010
NM_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000517.6(HBA2):c.95+21C>G rs563472142 0.00003
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro) rs281864817 0.00002
NM_000517.6(HBA2):c.193G>A (p.Asp65Asn) rs281864849 0.00001
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.*25C>T rs1462495649
NM_000517.6(HBA2):c.*8C>T
NM_000517.6(HBA2):c.148A>C (p.Ser50Arg) rs1596569718
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.154G>C (p.Gly52Arg) rs281864837
NM_000517.6(HBA2):c.164A>G (p.Gln55Arg) rs281864839
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu) rs281864853
NM_000517.6(HBA2):c.222G>T (p.Val74=) rs2142018022
NM_000517.6(HBA2):c.226G>A (p.Asp76Asn) rs281864858
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.266C>G (p.Ala89Gly) rs33983416
NM_000517.6(HBA2):c.271A>G (p.Lys91Glu) rs63750093
NM_000517.6(HBA2):c.273G>C (p.Lys91Asn)
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
NM_000517.6(HBA2):c.300G>T (p.Lys100Asn) rs281864555
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.383A>C (p.Lys128Thr) rs35431217
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp) rs281864809
NM_000517.6(HBA2):c.402C>T (p.Ser134=) rs41514946
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro) rs281860609
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg) rs63750294
NM_000517.6(HBA2):c.8T>G (p.Leu3Arg)
NM_000517.6(HBA2):c.95+11_95+34del rs1445188229
NM_000517.6(HBA2):c.96-5C>T

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