ClinVar Miner

List of variants studied for Toriello-Lacassie-Droste syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) rs202181446 0.00037
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) rs200446614 0.00009
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423 0.00001
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527

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