ClinVar Miner

List of variants studied for Toriello-Lacassie-Droste syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 4
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HGVS dbSNP
NM_004985.4(KRAS):c.57G>C (p.Leu19Phe) rs121913538
NM_015041.2(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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