List of variants reported as uncertain significance for atypical hemolytic-uremic syndrome with thrombomodulin anomaly by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.*1469C>T	rs3176124	0.00363
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.1700G>A (p.Arg567Gln)	rs368774068	0.00010
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.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.*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.72G>A (p.Gln24=)	rs1185401752	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.*562G>C	rs886056544
NM_000361.3(THBD):c.*663C>T	rs886056543
NM_000361.3(THBD):c.*775G>C	rs539785413
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.656G>T (p.Gly219Val)	rs886056548
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

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