ClinVar Miner

List of variants studied for Toriello-Lacassie-Droste syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) rs200446614
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) rs202181446

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