ClinVar Miner

List of variants in gene POT1 reported as benign

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NC_000007.14:g.124898383del rs57468586
NM_015450.3(POT1):c.-153-187G>A rs33964002
NM_015450.3(POT1):c.-227+159T>C rs12706628
NM_015450.3(POT1):c.-39-210T>G rs67585224
NM_015450.3(POT1):c.-40+162G>T rs74429678
NM_015450.3(POT1):c.1006+16A>G rs7794637
NM_015450.3(POT1):c.1007-205A>G rs7801661
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499
NM_015450.3(POT1):c.1164-13C>T rs3815221
NM_015450.3(POT1):c.1164-171A>T rs4731221
NM_015450.3(POT1):c.1164-188A>T rs4728010
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063
NM_015450.3(POT1):c.1369+158A>G rs3213667
NM_015450.3(POT1):c.1506-191C>T rs35184624
NM_015450.3(POT1):c.1594+41T>A rs10263573
NM_015450.3(POT1):c.1595-111A>G rs10244817
NM_015450.3(POT1):c.1687-5T>A rs35062732
NM_015450.3(POT1):c.1687-98T>G rs10250202
NM_015450.3(POT1):c.1792+209T>A rs2301930
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565
NM_015450.3(POT1):c.546+208G>A rs4397336
NM_015450.3(POT1):c.547-222C>A rs67084428
NM_015450.3(POT1):c.702+8A>T rs6959712
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_015450.3(POT1):c.702+9T>G rs6977407
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.3(POT1):c.870-33A>G rs7784168
NM_015450.3(POT1):c.9+179A>G rs115367394
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311

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