List of variants in gene DSP reported as pathogenic for not provided

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: 72

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.4855del (p.Leu1619fs)	rs1231490307	0.00003
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	rs886039343	0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	rs767643821	0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)	rs397516940	0.00001
NM_004415.4(DSP):c.939+1G>A	rs727504443	0.00001
NM_004415.2(DSP):c.2131_2132del	rs587782927
NM_004415.3(DSP):c.491_492delCCins15 (p.?)
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly)	rs1057518309
NM_004415.4(DSP):c.151C>T (p.Gln51Ter)	rs794728156
NM_004415.4(DSP):c.1670_1671del (p.Ile557fs)	rs2113677479
NM_004415.4(DSP):c.1A>G (p.Met1Val)	rs1131691557
NM_004415.4(DSP):c.2130+1G>A	rs727505115
NM_004415.4(DSP):c.2185dup (p.Met729fs)	rs2113683109
NM_004415.4(DSP):c.2297+2T>A	rs796218194
NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer)	rs794728135
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	rs768521444
NM_004415.4(DSP):c.2584_2585del (p.Gln862fs)
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)	rs730880081
NM_004415.4(DSP):c.273+1G>A	rs794728106
NM_004415.4(DSP):c.273del (p.Glu92fs)	rs794728136
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	rs730880082
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer)	rs794728139
NM_004415.4(DSP):c.3054_3055del (p.Ser1018fs)	rs2113690064
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)	rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)	rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)	rs397516932
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)	rs1554108050
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	rs746877365
NM_004415.4(DSP):c.3388_3389insCTTCC (p.Asp1130fs)	rs2113691650
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs)	rs1064794616
NM_004415.4(DSP):c.3419del (p.Asp1140fs)	rs794728140
NM_004415.4(DSP):c.3426dup (p.Gln1143fs)	rs794728141
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)	rs727503001
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)	rs1554108152
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_004415.4(DSP):c.3861del (p.Lys1288fs)
NM_004415.4(DSP):c.3901C>T (p.Gln1301Ter)	rs1449629687
NM_004415.4(DSP):c.3961C>T (p.Gln1321Ter)	rs794728119
NM_004415.4(DSP):c.4009del (p.Glu1337fs)	rs794727381
NM_004415.4(DSP):c.4054A>T (p.Arg1352Ter)	rs794728121
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.4228_4229del (p.Lys1410fs)
NM_004415.4(DSP):c.423-1G>T	rs1304410089
NM_004415.4(DSP):c.4397dup (p.Gln1467fs)	rs1581817513
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)	rs2113659637
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)	rs796620239
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	rs397516943
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	rs1554108431
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)	rs794728124
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)	rs397516946
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)	rs121912996
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	rs869025395
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)	rs397514040
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6273del (p.Ala2092fs)	rs794728146
NM_004415.4(DSP):c.6398dup (p.Val2134fs)	rs794728147
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)	rs1554108859
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)	rs141026028
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs)	rs794728148
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)	rs794728130
NM_004415.4(DSP):c.6940G>T (p.Glu2314Ter)	rs1057518101
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)	rs1554108929
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	rs397516955
NM_004415.4(DSP):c.7248del (p.Phe2416fs)	rs730880024
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)	rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs)	rs397514039
NM_004415.4(DSP):c.7756C>T (p.Arg2586Ter)
NM_004415.4(DSP):c.7873dup (p.Thr2625fs)	rs794728149
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter)	rs1064793890
NM_004415.4(DSP):c.811C>T (p.Gln271Ter)	rs2113669223
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)	rs879254353
NM_004415.4(DSP):c.928dup (p.Glu310fs)	rs794728137

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