ClinVar Miner

List of variants studied for Weill-Marchesani syndrome by Genome-Nilou Lab

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_030957.4(ADAMTS10):c.1588-179G>T rs9749567 0.92646
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_139057.4(ADAMTS17):c.1031+81A>G rs4965295 0.68113
NM_139057.4(ADAMTS17):c.873+58T>C rs4965297 0.67726
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_139057.4(ADAMTS17):c.873+62C>T rs4965296 0.57943
NM_139057.4(ADAMTS17):c.2950-45C>T rs11634977 0.57048
NM_139057.4(ADAMTS17):c.2949+35G>A rs7175995 0.50353
NM_139057.4(ADAMTS17):c.2796+96G>A rs12900132 0.49795
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_139057.4(ADAMTS17):c.617-41A>G rs7497712 0.40701
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_030957.4(ADAMTS10):c.811-149G>A rs7248483
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333

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