ClinVar Miner

List of variants in gene POT1 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.1506-43A>G rs376679541 0.00128
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.702+30T>C rs200074955 0.00084
NM_015450.3(POT1):c.949+40A>G rs182906205 0.00056
NM_015450.3(POT1):c.-34T>C rs202009081 0.00044
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.1686+32A>G rs749702835 0.00011
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439 0.00010
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00006
NM_015450.3(POT1):c.1401G>A (p.Ser467=) rs775385144 0.00004
NM_015450.3(POT1):c.879A>G (p.Glu293=) rs759178052 0.00004
NM_015450.3(POT1):c.950-40T>C rs544128807 0.00003
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 0.00002
NM_015450.3(POT1):c.869+12G>A rs762326478 0.00002
NM_015450.3(POT1):c.1050C>T (p.Ala350=) rs1199499328 0.00001
NM_015450.3(POT1):c.1369+10T>A rs773549874 0.00001
NM_015450.3(POT1):c.1566A>G (p.Thr522=) rs746796357 0.00001
NM_015450.3(POT1):c.1595-17T>G rs760900938 0.00001
NM_015450.3(POT1):c.315G>A (p.Thr105=) rs377547236 0.00001
NM_015450.3(POT1):c.87G>A (p.Val29=) rs1481759760 0.00001
NM_015450.3(POT1):c.994C>T (p.Leu332=) rs138223484 0.00001
NM_015450.3(POT1):c.996A>G (p.Leu332=) rs1224859801 0.00001
NM_015450.3(POT1):c.*29A>G
NM_015450.3(POT1):c.-18G>T rs1481216456
NM_015450.3(POT1):c.-39-8dup
NM_015450.3(POT1):c.1006+33A>G
NM_015450.3(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.3(POT1):c.1117A>C (p.Arg373=)
NM_015450.3(POT1):c.1163+29T>G
NM_015450.3(POT1):c.1164-25A>G
NM_015450.3(POT1):c.1164-29T>A
NM_015450.3(POT1):c.1176A>C (p.Pro392=) rs2116462173
NM_015450.3(POT1):c.1370-30A>T
NM_015450.3(POT1):c.1434T>C (p.Ser478=) rs1562977862
NM_015450.3(POT1):c.1505+36dup rs369649621
NM_015450.3(POT1):c.1505+7TGTTT[4]
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015450.3(POT1):c.1505+7TGTTT[8]
NM_015450.3(POT1):c.1505+8G>A rs1364537881
NM_015450.3(POT1):c.1506-35T>A
NM_015450.3(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.1656A>C (p.Thr552=) rs2116414814
NM_015450.3(POT1):c.1792+30C>T
NM_015450.3(POT1):c.255+48_255+49del
NM_015450.3(POT1):c.546+44A>C rs1490957374
NM_015450.3(POT1):c.547-38C>T
NM_015450.3(POT1):c.547-46C>A
NM_015450.3(POT1):c.702+12T>A
NM_015450.3(POT1):c.771A>G (p.Thr257=)
NM_015450.3(POT1):c.869+48G>A
NM_015450.3(POT1):c.870-21del
NM_015450.3(POT1):c.9+47A>G

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