ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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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.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.*41T>C rs377311614 0.00058
NM_000361.3(THBD):c.*26C>T rs13306852 0.00053
NM_000361.3(THBD):c.282C>G (p.Pro94=) rs538290084 0.00022
NM_000361.3(THBD):c.-151G>T rs16984852 0.00018
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.*2129C>A rs372816835 0.00006
NM_000361.3(THBD):c.*1271G>T rs563439109 0.00004
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.543G>A (p.Glu181=) rs542108654 0.00002
NM_000361.3(THBD):c.*511T>G rs182592762
NM_000361.3(THBD):c.15G>T (p.Leu5=) rs376209282
NM_000361.3(THBD):c.898C>A (p.Pro300Thr) rs199987510

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