ClinVar Miner

List of variants in gene DSP reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu) rs397516947 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 0.00004
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.485G>T (p.Arg162Leu) rs397516944 0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242 0.00003
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004415.4(DSP):c.2794-6G>A rs397516925 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.797T>C (p.Met266Thr) rs370890663 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.2131-10T>C rs369821143 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NC_000006.11:g.(?_7585983)_(7586222_?)dup
NM_004415.4(DSP):c.1045-8T>A rs201633815
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys) rs397516914
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1484T>C (p.Val495Ala) rs727504518
NM_004415.4(DSP):c.1517C>T (p.Pro506Leu) rs876657793
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.170+11G>T rs727505007
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3392G>C (p.Arg1131Thr) rs876657794
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3935C>G (p.Ser1312Cys) rs1554108214
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4156G>A (p.Glu1386Lys) rs397516935
NM_004415.4(DSP):c.4172A>G (p.Tyr1391Cys) rs727504547
NM_004415.4(DSP):c.4288A>T (p.Ile1430Phe) rs397516937
NM_004415.4(DSP):c.4472A>T (p.Asp1491Val) rs397516938
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe) rs868035157
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.4(DSP):c.5767G>A (p.Glu1923Lys) rs397516948
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6557T>G (p.Leu2186Arg) rs876657797
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6610C>T (p.Gln2204Ter) rs876657798
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6885A>T (p.Gln2295His) rs397516954
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.8020G>A (p.Ala2674Thr) rs397516961
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs) rs727504909
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.895A>G (p.Ser299Gly) rs876657801
NM_004415.4(DSP):c.927G>T (p.Gln309His) rs876657800
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026

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