List of variants in gene THBD reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000020.11:g.23049706C>T	rs13306848	0.00891
NM_000361.3(THBD):c.-151G>T	rs16984852	0.00018
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser)	rs398122807	0.00001
NM_000361.3(THBD):c.142G>A (p.Ala48Thr)	rs2122673257
NM_000361.3(THBD):c.1688dup (p.Gln564fs)

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