ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 17

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr) rs73064420 0.00014
NM_020347.4(LZTFL1):c.56G>A (p.Arg19His) rs537401357 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_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) rs774285913 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.281G>C (p.Trp94Ser) rs748688183
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_020347.4(LZTFL1):c.778-3C>T
NM_031200.3(CCR9):c.40G>T (p.Ala14Ser)

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