ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00036
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799 0.00032
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969 0.00010
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.3015A>G (p.Glu1005=) rs397516930 0.00003
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.111C>A (p.Thr37=) rs727502995
NM_004415.4(DSP):c.1263G>A (p.Leu421=) rs727504492
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3948T>C (p.Ala1316=) rs1554108219
NM_004415.4(DSP):c.4245T>A (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4371G>A (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4899C>G (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.7275C>G (p.Thr2425=) rs727503006
NM_004415.4(DSP):c.741G>T (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7998C>G (p.Gly2666=) rs397516960
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.939+13dup rs730880360

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