ClinVar Miner

List of variants in gene KNG1 studied for coagulation protein disease

Included ClinVar conditions (69):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter) rs121918131 0.00001
NM_001102416.3(KNG1):c.1038+1G>A rs377594184
NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter) rs752411996
NM_001102416.3(KNG1):c.1216dup (p.His406fs) rs797044430
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) rs797044429
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) rs559129841
NM_001102416.3(KNG1):c.306+2T>A
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter) rs761496908

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