ClinVar Miner

List of variants in gene THBD reported as benign for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1918G>A rs1962
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*277G>A rs3176134
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.-151G>T rs16984852
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1029A>G (p.Thr343=) rs79349426
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000361.3(THBD):c.*1271G>T
NM_000361.3(THBD):c.*511T>G
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678
NM_000361.3(THBD):c.15G>T (p.Leu5=)
NM_000361.3(THBD):c.282C>G (p.Pro94=) rs538290084
NM_000361.3(THBD):c.347A>C (p.Asn116Thr)
NM_000361.3(THBD):c.543G>A (p.Glu181=)
NM_000361.3(THBD):c.898C>A (p.Pro300Thr)
NM_000361.3(THBD):c.965G>T (p.Arg322Leu)

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