ClinVar Miner

List of variants studied for immune system disorder by Medical Genetics Unit, Sapienza University of Rome

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter) rs774561483

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