ClinVar Miner

List of variants studied for Toriello-Lacassie-Droste syndrome

Included ClinVar conditions (3):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) rs202181446 0.00037
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) rs200446614 0.00009
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
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_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004985.5(KRAS):c.534_536del (p.Lys180del) rs1373386042
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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