ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter) rs746994660
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547

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