ClinVar Miner

List of variants in gene THBD reported as uncertain significance for atypical hemolytic-uremic syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000361.3(THBD):c.*1469C>T rs3176124 0.00363
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.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

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