ClinVar Miner

List of variants in gene POT1 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565 0.03412
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311 0.00206
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210 0.00010
NM_015450.3(POT1):c.1217C>T (p.Thr406Ile) rs143841721 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00006
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913 0.00004
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly) rs548024862 0.00004
NM_015450.3(POT1):c.1803G>A (p.Pro601=) rs754981355 0.00004
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750 0.00003
NM_015450.3(POT1):c.525C>T (p.Asp175=) rs761930094 0.00003
NM_015450.3(POT1):c.896C>T (p.Ala299Val) rs913532816 0.00003
NM_015450.3(POT1):c.1864T>C (p.Tyr622His) rs188854542 0.00002
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg) rs369417655 0.00001
NM_015450.3(POT1):c.1523G>A (p.Ser508Asn) rs144522387 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.306A>G (p.Ala102=) rs1182980873 0.00001
NM_015450.3(POT1):c.44A>G (p.Asn15Ser) rs764821384 0.00001
NM_015450.3(POT1):c.547G>A (p.Val183Ile) rs1186225134 0.00001
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837 0.00001
NM_015450.3(POT1):c.853G>A (p.Val285Met) rs1795350062 0.00001
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.1369+6A>G rs1562980753
NM_015450.3(POT1):c.1434T>C (p.Ser478=) rs1562977862
NM_015450.3(POT1):c.1611C>G (p.Pro537=)
NM_015450.3(POT1):c.1656A>C (p.Thr552=) rs2116414814
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg) rs1222395233
NM_015450.3(POT1):c.1765A>G (p.Met589Val) rs1794602270
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu) rs996577534
NM_015450.3(POT1):c.389A>G (p.His130Arg)
NM_015450.3(POT1):c.597A>C (p.Gln199His)
NM_015450.3(POT1):c.605T>C (p.Val202Ala)
NM_015450.3(POT1):c.652A>C (p.Ile218Leu) rs1795515981
NM_015450.3(POT1):c.847T>G (p.Ser283Ala) rs1584765580
NM_015450.3(POT1):c.87G>C (p.Val29=) rs1481759760
NM_015450.3(POT1):c.992A>G (p.Gln331Arg) rs1795184096

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