ClinVar Miner

List of variants reported as benign for Weill-Marchesani syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000138.4(FBN1):c.*1084T>C rs3803350
NM_000138.4(FBN1):c.*1368A>G rs77212138
NM_000138.4(FBN1):c.*1562G>T rs78442438
NM_000138.4(FBN1):c.*1575T>G rs4775760
NM_000138.4(FBN1):c.*1959G>A rs12050562
NM_000138.4(FBN1):c.*2040T>C rs73390272
NM_000138.4(FBN1):c.*2158G>A rs11070641
NM_000138.4(FBN1):c.*314C>T rs1042078
NM_000138.4(FBN1):c.*730G>T rs13598
NM_000138.4(FBN1):c.-388C>T rs3825792
NM_000138.4(FBN1):c.156G>T (p.Ala52=) rs25398
NM_000138.4(FBN1):c.1875T>C (p.Asn625=) rs25458
NM_000138.4(FBN1):c.3082+6A>G rs79321504
NM_000138.4(FBN1):c.3464-5G>A rs11853943
NM_000138.4(FBN1):c.5066-14dupT rs3833018
NM_000138.4(FBN1):c.6855T>C (p.Asp2285=) rs363836
NM_000138.4(FBN1):c.6888G>A (p.Gln2296=) rs363830
NM_000138.4(FBN1):c.7819+8A>C rs363838
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614

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