ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 studied for not specified

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.4(HBB):c.*316A>C rs7110263 0.81846
NM_000518.4(HBB):c.*233G>C rs12788013 0.10429
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_000518.4(HBB):c.*353G>A rs112988270 0.00595
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.4(HBB):c.*231T>C rs567259408 0.00118
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.316-96G>C rs193922561 0.00039
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_000518.5(HBB):c.*65C>G rs1490059160 0.00010
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.*91G>A rs193922549 0.00008
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.*73T>C rs1265505530 0.00006
NM_000518.5(HBB):c.316-189A>G rs1034207896 0.00006
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.316-81T>A rs911937119 0.00004
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-177A>G rs964085975 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.*93A>T rs901033731 0.00002
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.*97G>C rs770911771 0.00001
NM_000518.5(HBB):c.316-102C>A rs1468940510 0.00001
NM_000518.5(HBB):c.316-107G>C rs930802593 0.00001
NM_000518.5(HBB):c.316-114C>A rs1003790835 0.00001
NM_000518.5(HBB):c.316-124A>T rs1184042209 0.00001
NM_000518.5(HBB):c.316-130T>C rs956857115 0.00001
NM_000518.5(HBB):c.316-145G>A rs1005042281 0.00001
NM_000518.5(HBB):c.316-156T>C rs1164871363 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.316-99T>G rs1232651664 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.386C>T (p.Ala129Val) rs33957286
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.5(HBB):c.*102C>T rs1554917429
NM_000518.5(HBB):c.*112A>T
NM_000518.5(HBB):c.*116dup rs281864532
NM_000518.5(HBB):c.*117C>T rs2133585664
NM_000518.5(HBB):c.*132C>T rs1420779550
NM_000518.5(HBB):c.*33G>T rs1364427740
NM_000518.5(HBB):c.*37C>G
NM_000518.5(HBB):c.*47C>G rs1158183534
NM_000518.5(HBB):c.*47C>T rs1158183534
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*51G>A
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*57C>G
NM_000518.5(HBB):c.*5G>C
NM_000518.5(HBB):c.*78T>C rs1554917435
NM_000518.5(HBB):c.315+9A>G rs1277597344
NM_000518.5(HBB):c.316-106C>A
NM_000518.5(HBB):c.316-112A>G rs1847535052
NM_000518.5(HBB):c.316-141G>A rs1011427406
NM_000518.5(HBB):c.316-146T>C rs35328027
NM_000518.5(HBB):c.316-171_316-170del rs1564874493
NM_000518.5(HBB):c.316-192G>A rs1564874512
NM_000518.5(HBB):c.316-194T>C
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.316-20C>T rs756657263
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-308_316-304del rs1847539022
NM_000518.5(HBB):c.316-42del rs746631999
NM_000518.5(HBB):c.316-44C>G
NM_000518.5(HBB):c.316-46G>A rs1554917642
NM_000518.5(HBB):c.316-60C>T rs1847533961
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-85A>G rs1847534399
NM_000518.5(HBB):c.316-96G>A rs193922561
NM_000518.5(HBB):c.316-99del rs1257175417
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.323G>T (p.Gly108Val) rs35519485
NM_000518.5(HBB):c.351T>A (p.His117Gln) rs35209776
NM_000518.5(HBB):c.351T>C (p.His117=) rs35209776
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.372C>A (p.Thr124=) rs780307221
NM_000518.5(HBB):c.372C>G (p.Thr124=)
NM_000518.5(HBB):c.372C>T (p.Thr124=) rs780307221
NM_000518.5(HBB):c.378A>T (p.Pro126=) rs1554917555
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.387_389del (p.Ala130del) rs1554917536
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.399A>T (p.Lys133Asn) rs33946775
NM_000518.5(HBB):c.407C>T (p.Ala136Val)
NM_000518.5(HBB):c.420T>G (p.Asn140Lys)
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338

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