ClinVar Miner

List of variants studied for Schwartz-Jampel syndrome by Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)

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