List of variants in gene DSP reported as pathogenic by Ambry Genetics

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: 97

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HGVS	dbSNP	gnomAD frequency
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.3865C>T (p.Gln1289Ter)	rs778178956	0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)	rs1554108287	0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs)	rs1289037294	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.5671_*835+957del4738insAGAACAGTCTT
NM_004415.2:c.6060_6061insALU
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)	rs1249913357
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)	rs778856526
NM_004415.4(DSP):c.1162del (p.Thr388fs)	rs1554106742
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	rs397516915
NM_004415.4(DSP):c.1282dup (p.Ile428fs)	rs1561687796
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
NM_004415.4(DSP):c.1751del (p.Glu584fs)	rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	rs1581805658
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)	rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)	rs876657638
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)	rs2113684096
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	rs768521444
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter)	rs1554107624
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)	rs2113686447
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer)	rs1759240256
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	rs730880082
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2980dup (p.Gln994fs)	rs1581813564
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs)	rs1561696970
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.3195C>G (p.Tyr1065Ter)	rs886039178
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	rs746877365
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)	rs727503000
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs)	rs727505271
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)	rs1759357763
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)	rs727503001
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)	rs1554108152
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)	rs2113692628
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
NM_004415.4(DSP):c.4009del (p.Glu1337fs)	rs794727381
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs)	rs1759385935
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.423-1G>T	rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs)	rs1554108280
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs)	rs886039009
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)	rs28763965
NM_004415.4(DSP):c.4423del (p.Thr1475fs)	rs1227662860
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)	rs2113659637
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)	rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)	rs1060500610
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)	rs1554108410
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)	rs794728124
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)	rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
NM_004415.4(DSP):c.557_558del (p.His186fs)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)	rs774763657
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)	rs1060500607
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)	rs1561701401
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs)	rs1759510200
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)	rs397514040
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6318del (p.Val2107fs)	rs2113699991
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)	rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs)	rs2113665124
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.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	rs397516955
NM_004415.4(DSP):c.712dup (p.Ile238fs)	rs397516956
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)	rs1561703922
NM_004415.4(DSP):c.928dup (p.Glu310fs)	rs794728137
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)	rs121912991

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