List of variants in gene THBD studied 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
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NC_000020.11:g.23049706C>T	rs13306848	0.00891
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.1208G>A (p.Arg403Lys)	rs41400249	0.00036
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.-151G>T	rs16984852	0.00018
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.716C>T (p.Ala239Val)	rs886056547	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.1062C>G (p.Asn354Lys)	rs375147630	0.00001
NM_000361.3(THBD):c.119C>T (p.Pro40Leu)	rs766710327	0.00001
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser)	rs398122807	0.00001
NM_000361.3(THBD):c.1319C>T (p.Thr440Met)	rs1438620913	0.00001
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)	rs1189569754	0.00001
NM_000361.3(THBD):c.1499C>T (p.Thr500Met)	rs753344243	0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)	rs572623850	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.407T>G (p.Leu136Trp)	rs550522588	0.00001
NM_000361.3(THBD):c.448G>A (p.Glu150Lys)	rs1292366066	0.00001
NM_000361.3(THBD):c.483G>T (p.Lys161Asn)	rs767341182	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.1073T>G (p.Val358Gly)
NM_000361.3(THBD):c.1076A>G (p.Asp359Gly)
NM_000361.3(THBD):c.1096G>A (p.Val366Met)
NM_000361.3(THBD):c.109G>T (p.Ala37Ser)
NM_000361.3(THBD):c.1105T>A (p.Cys369Ser)
NM_000361.3(THBD):c.1184C>T (p.Ala395Val)
NM_000361.3(THBD):c.119C>A (p.Pro40Gln)
NM_000361.3(THBD):c.1215G>C (p.Gln405His)
NM_000361.3(THBD):c.127del (p.Ala43fs)
NM_000361.3(THBD):c.1306G>T (p.Gly436Cys)
NM_000361.3(THBD):c.1351T>A (p.Cys451Ser)	rs776495714
NM_000361.3(THBD):c.1360del (p.Val454fs)
NM_000361.3(THBD):c.1372C>T (p.Leu458Phe)
NM_000361.3(THBD):c.1375C>T (p.Pro459Ser)
NM_000361.3(THBD):c.1378G>A (p.Gly460Ser)
NM_000361.3(THBD):c.1409C>T (p.Ser470Leu)
NM_000361.3(THBD):c.1411G>A (p.Ala471Thr)
NM_000361.3(THBD):c.1429G>A (p.Gly477Ser)
NM_000361.3(THBD):c.142G>A (p.Ala48Thr)	rs2122673257
NM_000361.3(THBD):c.1465G>C (p.Asp489His)
NM_000361.3(THBD):c.1470C>A (p.Ser490Arg)
NM_000361.3(THBD):c.1488_1490dup (p.Pro497_Ser498insPro)
NM_000361.3(THBD):c.14T>C (p.Leu5Pro)
NM_000361.3(THBD):c.1588G>A (p.Val530Met)
NM_000361.3(THBD):c.1621A>G (p.Lys541Glu)
NM_000361.3(THBD):c.1633G>A (p.Ala545Thr)
NM_000361.3(THBD):c.1660T>G (p.Cys554Gly)
NM_000361.3(THBD):c.1670C>T (p.Pro557Leu)
NM_000361.3(THBD):c.1678G>A (p.Glu560Lys)
NM_000361.3(THBD):c.1688dup (p.Gln564fs)
NM_000361.3(THBD):c.1699C>G (p.Arg567Gly)
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.254G>A (p.Arg85His)
NM_000361.3(THBD):c.257T>C (p.Leu86Pro)
NM_000361.3(THBD):c.280C>G (p.Pro94Ala)
NM_000361.3(THBD):c.295C>G (p.Pro99Ala)
NM_000361.3(THBD):c.302G>T (p.Arg101Leu)	rs546519295
NM_000361.3(THBD):c.340G>A (p.Asp114Asn)
NM_000361.3(THBD):c.376G>C (p.Asp126His)
NM_000361.3(THBD):c.379C>A (p.Leu127Ile)
NM_000361.3(THBD):c.394C>T (p.Leu132Phe)
NM_000361.3(THBD):c.403C>T (p.Pro135Ser)
NM_000361.3(THBD):c.459G>A (p.Trp153Ter)
NM_000361.3(THBD):c.49T>C (p.Phe17Leu)	rs1600410618
NM_000361.3(THBD):c.538G>T (p.Val180Leu)
NM_000361.3(THBD):c.587C>G (p.Pro196Arg)
NM_000361.3(THBD):c.59C>A (p.Pro20His)
NM_000361.3(THBD):c.607G>T (p.Asp203Tyr)
NM_000361.3(THBD):c.623C>G (p.Pro208Arg)
NM_000361.3(THBD):c.719C>T (p.Pro240Leu)
NM_000361.3(THBD):c.724G>T (p.Ala242Ser)
NM_000361.3(THBD):c.731A>G (p.Asp244Gly)
NM_000361.3(THBD):c.787C>G (p.Pro263Ala)
NM_000361.3(THBD):c.80G>A (p.Gly27Asp)
NM_000361.3(THBD):c.832C>T (p.Arg278Cys)
NM_000361.3(THBD):c.844G>C (p.Ala282Pro)
NM_000361.3(THBD):c.851C>G (p.Ala284Gly)
NM_000361.3(THBD):c.877G>C (p.Glu293Gln)	rs765071586
NM_000361.3(THBD):c.896A>C (p.Asn299Thr)
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	rs199987510
NM_000361.3(THBD):c.914C>T (p.Ser305Phe)
NM_000361.3(THBD):c.917_919del (p.Tyr306del)
NM_000361.3(THBD):c.920C>A (p.Ser307Ter)
NM_000361.3(THBD):c.938G>T (p.Gly313Val)
NM_000361.3(THBD):c.944G>A (p.Arg315Gln)
NM_000361.3(THBD):c.944G>T (p.Arg315Leu)
NM_000361.3(THBD):c.955G>A (p.Asp319Asn)
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
NM_000361.3(THBD):c.97C>T (p.His33Tyr)
NM_000361.3(THBD):c.988A>C (p.Ile330Leu)
NM_000361.3(THBD):c.994G>T (p.Glu332Ter)	rs1984641671

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