ClinVar Miner

List of variants in gene DSP reported by Blueprint Genetics,

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Gene type:
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Total variants: 66
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HGVS dbSNP
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1315G>A (p.Val439Ile) rs587782941
NM_004415.4(DSP):c.1348C>G (p.Pro450Ala) rs869025390
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.1702-13T>C
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.4(DSP):c.273+5G>A rs200473206
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2878-3C>T
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890
NM_004415.4(DSP):c.3199G>T (p.Ala1067Ser) rs730880083
NM_004415.4(DSP):c.325G>C (p.Glu109Gln)
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517
NM_004415.4(DSP):c.4954del (p.Glu1652fs)
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394
NM_004415.4(DSP):c.5161_5163GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala) rs572843477
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) rs730880089
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396
NM_004415.4(DSP):c.7213C>A (p.Leu2405Ile) rs774401264
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr) rs760501352
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.4(DSP):c.942del (p.Arg315fs)

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