ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.4(HBB):c.-121C>T rs281864518
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) rs33948578
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs) rs1847556466
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.253del (p.Thr85fs) rs1554917831
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer)
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.33dup (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.51C>T (p.Gly17=) rs370075492
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93-33_101del
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NM_000518.5(HBB):c.93-3T>G rs34527846

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