ClinVar Miner

List of variants in gene WDPCP reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter) rs763507671 0.00001
NM_015910.7(WDPCP):c.1799del (p.Arg600fs) rs776780491 0.00001
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter) rs772536466 0.00001
NM_015910.7(WDPCP):c.340dup (p.Ser114fs) rs1292684996 0.00001
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter) rs894887380 0.00001
NC_000002.11:g.(?_63401785)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63815425_?)del
NC_000002.11:g.(?_63540363)_(63540466_?)del
NC_000002.11:g.(?_63605501)_(63605664_?)del
NC_000002.11:g.(?_63711718)_(63815425_?)del
NC_000002.11:g.(?_63815311)_(63815405_?)del
NC_000002.12:g.(?_63378386)_(63404657_?)del
NM_015910.7(WDPCP):c.1198del (p.Glu400fs) rs2466511500
NM_015910.7(WDPCP):c.1342del (p.Val448fs) rs749464972
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs) rs1694365826
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs) rs1281918775
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs) rs1558542714
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs) rs2103954534
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs) rs1681413798
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs) rs2104771725
NM_015910.7(WDPCP):c.216del (p.Glu72fs) rs2467524698
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs) rs766056004
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.552_553del (p.Cys185fs) rs727503781
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter) rs2105466704
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs) rs1449433208

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