ClinVar Miner

List of variants in gene THBD reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000361.2(THBD):c.*1153A>G rs886056542
NM_000361.2(THBD):c.*1315C>T rs886056541
NM_000361.2(THBD):c.*1689C>T rs886056540
NM_000361.2(THBD):c.*1869G>A rs886056539
NM_000361.2(THBD):c.*508dupT rs373979588
NM_000361.2(THBD):c.*562G>C rs886056544
NM_000361.2(THBD):c.*663C>T rs886056543
NM_000361.2(THBD):c.*943dupT rs759004623
NM_000361.2(THBD):c.-38G>A rs750724405
NM_000361.2(THBD):c.1029A>G (p.Thr343=) rs79349426
NM_000361.2(THBD):c.1083G>A (p.Glu361=) rs370377519
NM_000361.2(THBD):c.1528G>A (p.Val510Met) rs555537779
NM_000361.2(THBD):c.331G>A (p.Val111Ile) rs886056549
NM_000361.2(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.2(THBD):c.675C>T (p.Thr225=) rs775568682
NM_000361.2(THBD):c.716C>T (p.Ala239Val) rs886056547
NM_000361.2(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.2(THBD):c.920C>T (p.Ser307Leu) rs372556297

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