ClinVar Miner

List of variants studied for hereditary disorder of connective tissue by Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001421.4(ELF4):c.1936C>T (p.Pro646Ser)
NM_003745.2(SOCS1):c.313G>T (p.Asp105Tyr)
NM_003745.2(SOCS1):c.604G>A (p.Asp202Asn)

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