ClinVar Miner

List of variants in gene LZTFL1 studied for Bardet-Biedl syndrome 17

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Total variants: 27
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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.721G>A (p.Ala241Thr) rs73064420 0.00014
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.56G>A (p.Arg19His) rs537401357 0.00006
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 0.00006
NM_020347.4(LZTFL1):c.583G>C (p.Asp195His) rs781428652 0.00004
NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys) rs1422916311 0.00002
NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln) rs185326114 0.00002
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) rs1354476372 0.00001
NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) rs774285913 0.00001
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702 0.00001
NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg) rs777788515 0.00001
NM_020347.4(LZTFL1):c.766A>G (p.Met256Val) rs768813044 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_020347.4(LZTFL1):c.128+13del rs750701550
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser) rs748688183
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs) rs431825171
NM_020347.4(LZTFL1):c.457-1G>T rs2125680264
NM_020347.4(LZTFL1):c.505A>T (p.Lys169Ter)
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_020347.4(LZTFL1):c.778-3C>T

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