ClinVar Miner

List of variants in gene WDPCP studied for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NC_000002.12:g.(?_63378386)_(63404657_?)del
NC_000002.12:g.(?_63484584)_(63492960_?)del
NM_015910.6(WDPCP):c.-227C>G rs376940318
NM_015910.6(WDPCP):c.-301G>A rs886056227
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_015910.7(WDPCP):c.*104A>C rs886056222
NM_015910.7(WDPCP):c.*138_*141GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*195G>A rs55807617
NM_015910.7(WDPCP):c.*323A>G rs369149310
NM_015910.7(WDPCP):c.*327G>A
NM_015910.7(WDPCP):c.*446C>T rs566014787
NM_015910.7(WDPCP):c.*541C>G rs532612381
NM_015910.7(WDPCP):c.*559G>A
NM_015910.7(WDPCP):c.*582C>G rs184659805
NM_015910.7(WDPCP):c.*586_*587AG[2] rs886056220
NM_015910.7(WDPCP):c.*604_*605del rs886056219
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.*634A>G
NM_015910.7(WDPCP):c.-108_-106GCG[6] rs563531309
NM_015910.7(WDPCP):c.-109G>C rs886056226
NM_015910.7(WDPCP):c.-113C>A rs192963932
NM_015910.7(WDPCP):c.-176G>C
NM_015910.7(WDPCP):c.-188G>C rs187916591
NM_015910.7(WDPCP):c.-96G>T
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.1356G>A (p.Lys452=) rs372258764
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)
NM_015910.7(WDPCP):c.1436-4A>G
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
NM_015910.7(WDPCP):c.1591_1593CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_015910.7(WDPCP):c.1625-3C>T
NM_015910.7(WDPCP):c.166G>C (p.Asp56His)
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu) rs780342443
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
NM_015910.7(WDPCP):c.1813-3C>T
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)
NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.1916-6C>T rs2421862
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.1951A>C (p.Asn651His)
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.2078+1G>T
NM_015910.7(WDPCP):c.208+11T>C rs201607698
NM_015910.7(WDPCP):c.208+1G>A
NM_015910.7(WDPCP):c.209-1G>A rs767481770
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703
NM_015910.7(WDPCP):c.2158+14A>G
NM_015910.7(WDPCP):c.2159-13T>C rs202221613
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu) rs886056225
NM_015910.7(WDPCP):c.255A>G (p.Ser85=)
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu)
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile)
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
NM_015910.7(WDPCP):c.477C>T (p.Leu159=) rs774300078
NM_015910.7(WDPCP):c.486C>T (p.Asp162=)
NM_015910.7(WDPCP):c.499+9C>T
NM_015910.7(WDPCP):c.60C>A (p.Ser20=) rs757553495
NM_015910.7(WDPCP):c.628_629TA[3] (p.Lys211fs) rs769674404
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.738C>T (p.Asn246=) rs543308588
NM_015910.7(WDPCP):c.75+13C>T rs182759221
NM_015910.7(WDPCP):c.76-15T>A rs200557033
NM_015910.7(WDPCP):c.76-1G>T rs397704728
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606

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