List of variants in gene DSP reported as pathogenic by OMIM

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.6310del (p.Thr2104fs)	rs730880092	0.00003
NM_004415.4(DSP):c.939+1G>A	rs727504443	0.00001
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)	rs606231295
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)	rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup)	rs606231293
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro)	rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro)	rs1554107096
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro)	rs1554107098
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter)	rs121912995
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter)	rs121912994
NM_004415.4(DSP):c.2876_2877+3del	rs730880023
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_004415.4(DSP):c.4778_4790del (p.Lys1593fs)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)	rs121912996
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)	rs397514040
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)	rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)	rs376923069
NM_004415.4(DSP):c.7248del (p.Phe2416fs)	rs730880024
NM_004415.4(DSP):c.7623del (p.Lys2542fs)	rs397514039
NM_004415.4(DSP):c.7780del (p.Ser2594fs)	rs397514045
NM_004415.4(DSP):c.8501G>A (p.Arg2834His)	rs121912999
NM_004415.4(DSP):c.861T>G (p.Asn287Lys)	rs121912993
NM_004415.4(DSP):c.897C>G (p.Ser299Arg)	rs121912992
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)	rs121912991

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