ClinVar Miner

List of variants in gene DSP reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NC_000006.11:g.(?_7552967)_(7579627_?)del
NC_000006.11:g.(?_7565582)_(7568149_?)del
NC_000006.11:g.(?_7576220)_(7581055_?)del
NM_004415.4(DSP):c.1045-1G>C
NM_004415.4(DSP):c.1141-1G>A rs2113673067
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1420-1G>T rs1060500609
NM_004415.4(DSP):c.1420-2A>G
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.1574+1G>C rs1758971797
NM_004415.4(DSP):c.169_170+13del rs2113629234
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.1701+2T>C
NM_004415.4(DSP):c.1702-1G>T
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1903+1G>T
NM_004415.4(DSP):c.1904-2A>G rs2113679702
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2297+2T>C rs796218194
NM_004415.4(DSP):c.2298-1G>C rs1417627909
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2436+1G>A rs2113684305
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2794-1G>A rs1759258675
NM_004415.4(DSP):c.2877+1G>A rs2113687794
NM_004415.4(DSP):c.2877+2T>C rs2113687807
NM_004415.4(DSP):c.422+1G>A
NM_004415.4(DSP):c.422+2T>G rs2113657846
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.423-2A>G rs2113659544
NM_004415.4(DSP):c.597+1G>A rs2113660108
NM_004415.4(DSP):c.777+2T>C
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.940-2del rs2113670901
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287

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