ClinVar Miner

List of variants reported as uncertain significance for beta Thalassemia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541 0.00002
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747 0.00002
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486 0.00001
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.10C>A (p.Leu4Met) rs34126315
NM_000518.5(HBB):c.167T>C (p.Met56Thr) rs35094013
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.237G>C (p.Leu79=) rs1847555518
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) rs63750519
NM_000518.5(HBB):c.387T>A (p.Ala129=) rs1248780802
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.93-6C>T rs1554918048

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