ClinVar Miner

List of variants reported as pathogenic for Filippi syndrome

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr) rs548949031 0.00001
NM_152515.5(CKAP2L):c.78_79insTT (p.Gly27fs) rs727502803 0.00001
NM_001304361.2(CKAP2L):c.-280-59_-11del rs1553442237
NM_152515.5(CKAP2L):c.1004_1029dup (p.Tyr344fs)
NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)
NM_152515.5(CKAP2L):c.1169_1173del (p.Ile390fs) rs1361993950
NM_152515.5(CKAP2L):c.1822+1G>A rs1680053234
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs) rs727502805
NM_152515.5(CKAP2L):c.571dup (p.Ile191fs) rs727502802
NM_152515.5(CKAP2L):c.751del (p.Ser251fs) rs727502804

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