ClinVar Miner

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

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_001008844.3(DSP):c.5826del (p.Lys1943fs) rs397514039
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.3(DSP):c.491_492delCCins15 (p.?)
NM_004415.4(DSP):c.1141-2A>G rs794728111
NM_004415.4(DSP):c.151C>T (p.Gln51Ter) rs794728156
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
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.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343
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.2865_2869CAATT[1] (p.Asn956_Ser957insTer) rs794728139
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.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.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821
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.423-1G>T rs1304410089
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
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.5851C>T (p.Arg1951Ter) rs869025395
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.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7899dup (p.Thr2634fs) rs1131691561
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.939+1G>A rs727504443

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