ClinVar Miner

List of variants in gene LZTFL1 reported as likely benign for Bardet-Biedl syndrome 17

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) rs9917821 0.01995
NM_020347.4(LZTFL1):c.881+16C>T rs193075494 0.00050
NM_020347.4(LZTFL1):c.128+13G>A rs192123238 0.00049
NM_020347.4(LZTFL1):c.881+18C>T rs535240697 0.00007
NM_020347.4(LZTFL1):c.881+19G>A rs773028690 0.00007
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 0.00006
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 0.00001
NM_020347.4(LZTFL1):c.128+13del rs750701550

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