ClinVar Miner

List of variants studied for Weill-Marchesani syndrome 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) rs121434358 0.00021
NM_030957.4(ADAMTS10):c.810+1G>A rs387906266 0.00001
NM_030957.4(ADAMTS10):c.1190+1G>A rs431825170
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) rs267606636
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) rs267606637
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) rs121434359

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