ClinVar Miner

List of variants studied for short rib dysplasia by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992

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