List of variants in gene DSP reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.6310del (p.Thr2104fs)	rs730880092	0.00003
NM_004415.4(DSP):c.2436+2T>C	rs774514264	0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)	rs1464253797	0.00001
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
NM_004415.4(DSP):c.2130+1G>A	rs727505115
NM_004415.4(DSP):c.2131-3_2131del
NM_004415.4(DSP):c.2437-1G>C	rs1057517903
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)	rs774763657
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)	rs2113698710
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs)	rs1759529582
NM_004415.4(DSP):c.6451dup (p.Arg2151fs)	rs1759533568
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)	rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)	rs1561702640
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)	rs2113701867
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)	rs763560697
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)

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