List of variants in gene WDPCP reported as pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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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.301C>T (p.Arg101Ter)	rs772536466	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)
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)	rs1694365826
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs)	rs1281918775
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs)	rs2103954534
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
NM_015910.7(WDPCP):c.1809_1812+6del	rs2103953112
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.2078+1G>T	rs1673664656
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)	rs2105500878
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)	rs2105466704
NM_015910.7(WDPCP):c.76-1G>T	rs397704728
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)

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