ClinVar Miner

List of variants studied for KBG syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001256182:c.7545delG
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) rs2033967776
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799

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