List of variants in gene THBD studied for atypical hemolytic-uremic syndrome

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: 112

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HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.*1918G>A	rs1962	0.75190
NM_000361.3(THBD):c.*793A>G	rs1042580	0.32212
NM_000361.3(THBD):c.*1001A>C	rs3176123	0.15095
NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	rs1042579	0.15009
NM_000361.3(THBD):c.*351A>G	rs11696919	0.04028
NM_000361.3(THBD):c.*87T>G	rs3176133	0.02931
NM_000361.3(THBD):c.-58G>C	rs13306849	0.02804
NM_000361.3(THBD):c.*2143C>T	rs3176126	0.01185
NM_000361.3(THBD):c.*1993T>C	rs3176136	0.00972
NM_000361.3(THBD):c.*277G>A	rs3176134	0.00836
NM_000361.3(THBD):c.*497G>A	rs3176122	0.00808
NM_000361.3(THBD):c.*321G>T	rs56354707	0.00668
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg)	rs76135678	0.00655
NM_000361.3(THBD):c.*759A>T	rs73611750	0.00628
NM_000361.3(THBD):c.1092G>A (p.Glu364=)	rs73901577	0.00611
NM_000361.3(THBD):c.40G>A (p.Gly14Ser)	rs191884040	0.00483
NM_000361.3(THBD):c.*1562G>T	rs183647515	0.00453
NM_000361.3(THBD):c.*520C>G	rs41282276	0.00453
NM_000361.3(THBD):c.*1469C>T	rs3176124	0.00363
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	rs41348347	0.00281
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	rs1800576	0.00255
NM_000361.3(THBD):c.*1171C>G	rs143450327	0.00245
NM_000361.3(THBD):c.*1770T>C	rs113252822	0.00232
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)	rs1800579	0.00193
NM_000361.3(THBD):c.*158G>A	rs3176121	0.00118
NM_000361.3(THBD):c.683C>T (p.Pro228Leu)	rs375011249	0.00060
NM_000361.3(THBD):c.*41T>C	rs377311614	0.00058
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	rs1800578	0.00057
NM_000361.3(THBD):c.*26C>T	rs13306852	0.00053
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.-12C>T	rs370548660	0.00026
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.282C>G (p.Pro94=)	rs538290084	0.00022
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.-151G>T	rs16984852	0.00018
NM_000361.3(THBD):c.*325T>C	rs186669520	0.00014
NM_000361.3(THBD):c.347A>C (p.Asn116Thr)	rs773006742	0.00014
NM_000361.3(THBD):c.*47C>T	rs551028498	0.00012
NM_000361.3(THBD):c.965G>T (p.Arg322Leu)	rs146549103	0.00011
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)	rs368774068	0.00010
NM_000361.3(THBD):c.*2129C>A	rs372816835	0.00006
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)	rs373741115	0.00005
NM_000361.3(THBD):c.*1271G>T	rs563439109	0.00004
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.1083G>A (p.Glu361=)	rs370377519	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.*1239G>A	rs549574979	0.00002
NM_000361.3(THBD):c.1029A>G (p.Thr343=)	rs79349426	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.543G>A (p.Glu181=)	rs542108654	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.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.158A>G (p.Asp53Gly)	rs121918667	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.920C>T (p.Ser307Leu)	rs372556297	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.*511T>G	rs182592762
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.1057C>A (p.Pro353Thr)
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.15G>T (p.Leu5=)	rs376209282
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.245del (p.Gly82fs)	rs1600410451
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.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>A (p.Pro300Thr)	rs199987510
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	rs199987510

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