ClinVar Miner

List of variants in gene POT1 reported as benign

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.950-257T>C rs10235657 0.73468
NM_015450.3(POT1):c.950-258C>T rs10268372 0.73374
NM_015450.3(POT1):c.1006+16A>G rs7794637 0.70530
NM_015450.3(POT1):c.-40+30C>T rs10229152 0.62692
NM_015450.3(POT1):c.-226-155A>G rs2219954 0.62133
NM_015450.3(POT1):c.10-282G>A rs7357296 0.60259
NM_015450.3(POT1):c.-153-162T>C rs12537161 0.60234
NM_015450.3(POT1):c.547-236G>C rs4422720 0.60193
NM_015450.3(POT1):c.546+215T>C rs6961292 0.60149
NM_015450.3(POT1):c.702+9T>G rs6977407 0.60082
NM_015450.3(POT1):c.702+8A>T rs6959712 0.60081
NM_015450.3(POT1):c.1007-255T>A rs4731223 0.41269
NM_015450.3(POT1):c.1506-191C>T rs35184624 0.39803
NM_015450.3(POT1):c.1164-13C>T rs3815221 0.39789
NM_015450.3(POT1):c.1594+41T>A rs10263573 0.39783
NM_015450.3(POT1):c.1792+209T>A rs2301930 0.39763
NM_015450.3(POT1):c.1687-98T>G rs10250202 0.39759
NM_015450.3(POT1):c.1164-188A>T rs4728010 0.39621
NM_015450.3(POT1):c.1164-171A>T rs4731221 0.37821
NM_015450.3(POT1):c.870-33A>G rs7784168 0.31879
NM_015450.3(POT1):c.-153-187G>A rs33964002 0.31863
NM_015450.3(POT1):c.546+208G>A rs4397336 0.28992
NM_015450.3(POT1):c.1007-205A>G rs7801661 0.21776
NM_015450.3(POT1):c.1595-111A>G rs10244817 0.21731
NM_015450.3(POT1):c.547-222C>A rs67084428 0.21594
NM_015450.3(POT1):c.547-314T>G rs28638102 0.21491
NM_015450.3(POT1):c.702+304G>C rs10233385 0.21472
NM_015450.3(POT1):c.-39-210T>G rs67585224 0.19931
NM_015450.3(POT1):c.869+263T>C rs66513837 0.19833
NM_015450.3(POT1):c.-227+159T>C rs12706628 0.13478
NM_015450.3(POT1):c.-40+162G>T rs74429678 0.04770
NM_015450.3(POT1):c.256-299A>G rs59045238 0.04475
NM_015450.3(POT1):c.1164-216G>C rs68016764 0.04409
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565 0.03412
NM_015450.3(POT1):c.256-126T>A rs77854550 0.02725
NM_015450.3(POT1):c.1686+215A>G rs80348760 0.01908
NM_015450.3(POT1):c.1595-254A>G rs114685329 0.01726
NM_015450.3(POT1):c.9+179A>G rs115367394 0.01726
NM_015450.3(POT1):c.546+292A>G rs74440803 0.01724
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751 0.01432
NM_015450.3(POT1):c.1792+50A>G rs146966778 0.01055
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311 0.00305
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00301
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.*998G>A rs530211997 0.00157
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261 0.00106
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.-34T>C rs202009081 0.00043
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784 0.00020
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210 0.00010
NM_015450.3(POT1):c.1686+32A>G rs749702835 0.00010
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499 0.00005
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913 0.00004
NM_015450.3(POT1):c.1793-25G>A rs575804706 0.00004
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00002
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.-39-15_-39-12del rs199955944
NM_015450.3(POT1):c.-39-182del rs11329934
NM_015450.3(POT1):c.1007-11del rs1304104982
NM_015450.3(POT1):c.125-12del rs2485505462
NM_015450.3(POT1):c.1369+158A>G rs3213667
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015450.3(POT1):c.1505+7TGTTT[7] rs66826272
NM_015450.3(POT1):c.1506-12del rs2116422381
NM_015450.3(POT1):c.1595-11del rs762511146
NM_015450.3(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.1793-11del
NM_015450.3(POT1):c.1793-11dup rs2485333591
NM_015450.3(POT1):c.1793-17del rs770069410
NM_015450.3(POT1):c.548T>G (p.Val183Gly) rs200464979
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_015450.3(POT1):c.703-3del rs1584765789
NM_015450.3(POT1):c.9+306G>T rs10224463

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