ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 15

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383 0.00147
NM_015910.7(WDPCP):c.*446C>T rs566014787 0.00112
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595 0.00052
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138 0.00042
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00026
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_015910.7(WDPCP):c.75+13C>T rs182759221 0.00021
NM_015910.7(WDPCP):c.-109G>C rs886056226 0.00016
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703 0.00014
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948 0.00012
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224 0.00010
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704 0.00010
NM_015910.7(WDPCP):c.*541C>G rs532612381 0.00009
NM_015910.7(WDPCP):c.2159-13T>C rs202221613 0.00009
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606 0.00009
NM_015910.7(WDPCP):c.-176G>C rs151273399 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_015910.7(WDPCP):c.208+11T>C rs201607698 0.00005
NM_015910.7(WDPCP):c.*582C>G rs184659805 0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713 0.00004
NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly) rs758621800 0.00003
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256 0.00003
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile) rs576368237 0.00003
NM_015910.7(WDPCP):c.*104A>C rs886056222 0.00002
NM_015910.7(WDPCP):c.*559G>A rs1374866370 0.00002
NM_015910.7(WDPCP):c.499+9C>T rs746261282 0.00002
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322 0.00001
NM_015910.7(WDPCP):c.255A>G (p.Ser85=) rs1252079324 0.00001
NM_015910.7(WDPCP):c.486C>T (p.Asp162=) rs372538263 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NM_015910.7(WDPCP):c.*634A>G rs944385657
NM_015910.7(WDPCP):c.-96G>T rs1282451086
NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn) rs1694406253
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=) rs376164426
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp) rs1700981081
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys) rs987143451
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu) rs780342443
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu) rs778132438
NM_015910.7(WDPCP):c.1923G>A (p.Leu641=) rs886056223
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.2158+14A>G rs1042442806
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg) rs374727283
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu) rs886056225
NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs) rs769674404
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val) rs571641878
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706

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