List of variants in gene WDPCP studied for Bardet-Biedl syndrome 15

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 136

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HGVS	dbSNP	gnomAD frequency
NM_015910.7(WDPCP):c.1915+13G>A	rs992214	0.63738
NM_015910.7(WDPCP):c.1624+24T>A	rs2138796	0.56759
NM_015910.7(WDPCP):c.1916-6C>T	rs2421862	0.14640
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser)	rs17617459	0.04486
NM_015910.7(WDPCP):c.*195G>A	rs55807617	0.02897
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	rs61734468	0.00905
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)	rs61734466	0.00572
NM_015910.7(WDPCP):c.-188G>C	rs187916591	0.00436
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)	rs141340867	0.00398
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.1263A>C (p.Leu421Phe)	rs189817127	0.00141
NM_015910.7(WDPCP):c.*446C>T	rs566014787	0.00112
NM_015910.7(WDPCP):c.*327G>A	rs565212301	0.00084
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)	rs199676595	0.00052
NM_015910.7(WDPCP):c.-113C>A	rs192963932	0.00050
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)	rs200170138	0.00042
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)	rs144703991	0.00039
NM_015910.7(WDPCP):c.1916-18A>G	rs201068492	0.00032
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)	rs141845729	0.00029
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp)	rs201399904	0.00028
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)	rs185980830	0.00026
NM_015910.7(WDPCP):c.826-13T>C	rs368439537	0.00024
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.1789G>A (p.Val597Ile)	rs776917693	0.00020
NM_015910.7(WDPCP):c.-109G>C	rs886056226	0.00016
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)	rs201412509	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.1435+19T>C	rs367947125	0.00013
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)	rs367727948	0.00012
NM_015910.7(WDPCP):c.385-12A>G	rs528402153	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.2178C>T (p.Asp726=)	rs367690400	0.00007
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)	rs3738877	0.00007
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn)	rs780625068	0.00006
NM_015910.7(WDPCP):c.209-1G>A	rs767481770	0.00006
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp)	rs771029060	0.00005
NM_015910.7(WDPCP):c.208+11T>C	rs201607698	0.00005
NM_015910.7(WDPCP):c.825+19T>G	rs780109239	0.00005
NM_015910.7(WDPCP):c.*323A>G	rs369149310	0.00004
NM_015910.7(WDPCP):c.*582C>G	rs184659805	0.00004
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr)	rs747767839	0.00004
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met)	rs374807784	0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=)	rs192196713	0.00004
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val)	rs141761524	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.1799G>A (p.Arg600His)	rs375036014	0.00003
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)	rs576368237	0.00003
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys)	rs375338402	0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)	rs769180655	0.00003
NM_015910.7(WDPCP):c.76-15T>A	rs200557033	0.00003
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys)	rs747564290	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.1784T>A (p.Val595Asp)	rs761696659	0.00002
NM_015910.7(WDPCP):c.208+6G>T	rs775227440	0.00002
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)	rs758543575	0.00002
NM_015910.7(WDPCP):c.499+9C>T	rs746261282	0.00002
NM_015910.7(WDPCP):c.634-12T>A	rs779141559	0.00002
NM_015910.7(WDPCP):c.771T>A (p.Ser257=)	rs764847886	0.00002
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser)	rs779714128	0.00001
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val)	rs1040913823	0.00001
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)	rs769165669	0.00001
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)	rs373940251	0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	rs544657165	0.00001
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)	rs750245323	0.00001
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr)	rs370842356	0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)	rs534102944	0.00001
NM_015910.7(WDPCP):c.161-14C>T	rs755586280	0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)	rs1168632851	0.00001
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)	rs750924240	0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=)	rs765502945	0.00001
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)	rs373413042	0.00001
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)	rs1242470451	0.00001
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys)	rs765674630	0.00001
NM_015910.7(WDPCP):c.210G>A (p.Ala70=)	rs961809737	0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=)	rs769550847	0.00001
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)	rs746225322	0.00001
NM_015910.7(WDPCP):c.2190+1G>A	rs1671980611	0.00001
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn)	rs1206045016	0.00001
NM_015910.7(WDPCP):c.255A>G (p.Ser85=)	rs1252079324	0.00001
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln)	rs746158542	0.00001
NM_015910.7(WDPCP):c.325-17T>C	rs542348306	0.00001
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)	rs756891717	0.00001
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)	rs952535961	0.00001
NM_015910.7(WDPCP):c.486C>T (p.Asp162=)	rs372538263	0.00001
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly)	rs750252971	0.00001
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu)	rs755148252	0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=)	rs375737055	0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)	rs761312526	0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)	rs774816454	0.00001
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val)	rs747114578	0.00001
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)	rs545767612	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.1187G>T (p.Ser396Ile)
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val)	rs1694378572
NM_015910.7(WDPCP):c.123G>A (p.Leu41=)	rs779322047
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr)	rs886056224
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg)	rs2105185377
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)	rs1700981081
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del)	rs748711953
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)	rs987143451
NM_015910.7(WDPCP):c.1625-12T>G	rs1014640074
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu)	rs780342443
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg)	rs190629484
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)	rs778132438
NM_015910.7(WDPCP):c.1809_1812+6del	rs2103953112
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.2078+1G>T	rs1673664656
NM_015910.7(WDPCP):c.2158+14A>G	rs1042442806
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)	rs374727283
NM_015910.7(WDPCP):c.253+2T>C	rs1700584499
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu)	rs886056225
NM_015910.7(WDPCP):c.395G>T (p.Gly132Val)
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)	rs2105500878
NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs)	rs769674404
NM_015910.7(WDPCP):c.633+17A>T	rs373456348
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)	rs571641878
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys)	rs1324126661
NM_015910.7(WDPCP):c.76-1G>T	rs397704728
NM_015910.7(WDPCP):c.924A>G (p.Val308=)	rs201844706

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