ClinVar Miner

List of variants in gene CKAP2L reported as uncertain significance for Filippi syndrome

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met) rs201346406 0.00023
NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys) rs551009951 0.00017
NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val) rs748992677 0.00010
NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val) rs750566749 0.00002
NM_152515.5(CKAP2L):c.1024G>A (p.Gly342Ser)
NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)
NM_152515.5(CKAP2L):c.199C>A (p.Pro67Thr) rs1442633705

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