List of variants in gene THBD reported as uncertain significance for coagulation protein disease

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg)	rs76135678	0.00655
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	rs41348347	0.00281
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)	rs1800579	0.00193
NM_000361.3(THBD):c.683C>T (p.Pro228Leu)	rs375011249	0.00060
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	rs1800578	0.00057
NM_000361.3(THBD):c.1361T>C (p.Val454Ala)	rs147377392	0.00029
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)	rs546519295	0.00025
NM_000361.3(THBD):c.866A>T (p.Asn289Ile)	rs143748797	0.00021
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)	rs368774068	0.00010
NM_000361.3(THBD):c.1523C>T (p.Pro508Leu)	rs201936427	0.00008
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)	rs373741115	0.00005
NM_000361.3(THBD):c.277C>A (p.Pro93Thr)	rs754342536	0.00004
NM_000361.3(THBD):c.289G>A (p.Gly97Ser)	rs1239586434	0.00004
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)	rs776866172	0.00003
NM_000361.3(THBD):c.1614C>A (p.His538Gln)	rs1436540579	0.00003
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)	rs201487514	0.00002
NM_000361.3(THBD):c.415G>T (p.Ala139Ser)	rs982068192	0.00002
NM_000361.3(THBD):c.119C>T (p.Pro40Leu)	rs766710327	0.00001
NM_000361.3(THBD):c.1319C>T (p.Thr440Met)	rs1438620913	0.00001
NM_000361.3(THBD):c.1499C>T (p.Thr500Met)	rs753344243	0.00001
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)	rs775671453	0.00001
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)	rs138861385	0.00001
NM_000361.3(THBD):c.236G>C (p.Gly79Ala)	rs1800577	0.00001
NM_000361.3(THBD):c.247C>G (p.Arg83Gly)	rs748313651	0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala)	rs757422951	0.00001
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)	rs376845574
NM_000361.3(THBD):c.1351T>A (p.Cys451Ser)	rs776495714
NM_000361.3(THBD):c.180G>A (p.Met60Ile)	rs2122673111
NM_000361.3(THBD):c.241G>A (p.Val81Ile)	rs772288987
NM_000361.3(THBD):c.844G>C (p.Ala282Pro)
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	rs199987510
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
NM_000361.3(THBD):c.994G>T (p.Glu332Ter)	rs1984641671

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