List of variants in gene THBD reported as uncertain significance for immune system disorder

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: 67

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HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.*1469C>T	rs3176124	0.00363
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	rs1800576	0.00255
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.*1011C>A	rs534762196	0.00023
NM_000361.3(THBD):c.*338C>T	rs536637715	0.00021
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.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.376G>T (p.Asp126Tyr)	rs768667473	0.00004
NM_000361.3(THBD):c.675C>T (p.Thr225=)	rs775568682	0.00004
NM_000361.3(THBD):c.*230T>G	rs985689499	0.00003
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.331G>A (p.Val111Ile)	rs886056549	0.00003
NM_000361.3(THBD):c.716C>T (p.Ala239Val)	rs886056547	0.00003
NM_000361.3(THBD):c.*1104A>C	rs926288174	0.00002
NM_000361.3(THBD):c.1528G>A (p.Val510Met)	rs555537779	0.00002
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.*1315C>T	rs886056541	0.00001
NM_000361.3(THBD):c.*1505C>G	rs1439185320	0.00001
NM_000361.3(THBD):c.*1689C>T	rs886056540	0.00001
NM_000361.3(THBD):c.*169G>A	rs543317002	0.00001
NM_000361.3(THBD):c.*509C>T	rs1189083158	0.00001
NM_000361.3(THBD):c.-38G>A	rs750724405	0.00001
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.72G>A (p.Gln24=)	rs1185401752	0.00001
NM_000361.3(THBD):c.763G>C (p.Ala255Pro)	rs1276712753	0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala)	rs757422951	0.00001
NM_000361.3(THBD):c.*1153A>G	rs886056542
NM_000361.3(THBD):c.*1519G>C	rs1984567640
NM_000361.3(THBD):c.*1845G>T	rs867940213
NM_000361.3(THBD):c.*1869G>A	rs886056539
NM_000361.3(THBD):c.*1G>T	rs1984610334
NM_000361.3(THBD):c.*27C>T	rs530087674
NM_000361.3(THBD):c.*508dup	rs373979588
NM_000361.3(THBD):c.*562G>C	rs886056544
NM_000361.3(THBD):c.*663C>T	rs886056543
NM_000361.3(THBD):c.*775G>C	rs539785413
NM_000361.3(THBD):c.*943dup	rs759004623
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)	rs376845574
NM_000361.3(THBD):c.1205A>G (p.His402Arg)	rs1984634547
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)	rs1984617316
NM_000361.3(THBD):c.1674C>G (p.Ser558=)	rs1984613257
NM_000361.3(THBD):c.1712C>T (p.Thr571Met)	rs1166732867
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.563C>G (p.Ala188Gly)
NM_000361.3(THBD):c.656G>T (p.Gly219Val)	rs886056548
NM_000361.3(THBD):c.667A>C (p.Met223Leu)
NM_000361.3(THBD):c.670T>G (p.Cys224Gly)
NM_000361.3(THBD):c.747C>G (p.Asn249Lys)	rs886056546
NM_000361.3(THBD):c.885C>T (p.Phe295=)	rs1568666169
NM_000361.3(THBD):c.897C>T (p.Asn299=)	rs1008621697
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	rs199987510
NM_000361.3(THBD):c.963C>G (p.His321Gln)

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