List of variants in gene DST reported as likely pathogenic

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_001723.7(DST):c.7432C>T (p.Arg2478Ter)	rs767292450	0.00006
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)	rs201045495	0.00004
NM_001374736.1(DST):c.16609-1G>T	rs766657292	0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter)	rs779271284	0.00003
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)	rs766294952	0.00001
NM_001374736.1(DST):c.217-1G>A	rs1310802903	0.00001
NM_001723.7(DST):c.6289A>G (p.Thr2097Ala)	rs373440035	0.00001
NM_001374736.1(DST):c.11928+1G>A	rs2152697802
NM_001374736.1(DST):c.13236+1G>A
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)	rs893650971
NM_001374736.1(DST):c.16608+1G>A	rs748746313
NM_001374736.1(DST):c.17595+1G>A	rs2096858510
NM_001374736.1(DST):c.17680+1G>A
NM_001374736.1(DST):c.17854G>T (p.Glu5952Ter)	rs1341890249
NM_001374736.1(DST):c.17923-2A>G	rs2152506082
NM_001374736.1(DST):c.18577-2del
NM_001374736.1(DST):c.19012+1G>A
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)	rs1562435373
NM_001374736.1(DST):c.19464+1G>A
NM_001374736.1(DST):c.19567-29_19570del
NM_001374736.1(DST):c.20757+1G>A	rs2152440123
NM_001374736.1(DST):c.21048-1G>T	rs2152427474
NM_001374736.1(DST):c.21208-2A>T	rs2152422891
NM_001374736.1(DST):c.21403-1G>A
NM_001374736.1(DST):c.22476+1G>A	rs2152394710
NM_001374736.1(DST):c.22569+2T>C
NM_001374736.1(DST):c.22959+1G>A	rs2094441686
NM_001374736.1(DST):c.22960-2A>C
NM_001374736.1(DST):c.23071-2A>G	rs2152370482
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)	rs1242078669
NM_001374736.1(DST):c.2619+1G>A
NM_001374736.1(DST):c.3061-2A>T	rs1454639285
NM_001374736.1(DST):c.3187-2A>G	rs200803122
NM_001374736.1(DST):c.4278_4281+1del
NM_001374736.1(DST):c.4281+1G>A	rs1587154269
NM_001374736.1(DST):c.608C>A (p.Ala203Glu)	rs201871537
NM_001723.7(DST):c.22del (p.Tyr8fs)	rs775912185
NM_001723.7(DST):c.5484T>A (p.Cys1828Ter)
NM_001723.7(DST):c.6396del (p.Phe2132_Leu2133insTer)	rs748845919
NM_001723.7(DST):c.64C>T (p.Arg22Ter)	rs779625484
NM_001723.7(DST):c.7887_7891delinsGTA (p.Lys2630fs)	rs1554497505

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