ClinVar Miner

List of variants studied for immune system disorder by Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.113TGC[3] (p.Leu41del)
NM_001142864.4(PIEZO1):c.4914C>G (p.Tyr1638Ter)
NM_001258392.3(CLPB):c.449_455del (p.Val150fs)

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