ClinVar Miner

List of variants in gene POT1 reported by GeneDx

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Gene type:
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Total variants: 59
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HGVS dbSNP
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NC_000007.14:g.124898104dup
NC_000007.14:g.124898383del
NM_015450.2(POT1):c.-39-15_-39-12delCTTT rs199955944
NM_015450.2(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.-153-187G>A
NM_015450.3(POT1):c.-227+159T>C
NM_015450.3(POT1):c.-304C>A
NM_015450.3(POT1):c.-39-210T>G
NM_015450.3(POT1):c.-40+162G>T
NM_015450.3(POT1):c.1006+16A>G rs7794637
NM_015450.3(POT1):c.1007-205A>G
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.3(POT1):c.1164-13C>T rs3815221
NM_015450.3(POT1):c.1164-171A>T
NM_015450.3(POT1):c.1164-188A>T
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063
NM_015450.3(POT1):c.1369+158A>G
NM_015450.3(POT1):c.1370-150A>G
NM_015450.3(POT1):c.1401G>A (p.Ser467=) rs775385144
NM_015450.3(POT1):c.1407G>A (p.Lys469=)
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1506-191C>T
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095
NM_015450.3(POT1):c.1594+41T>A
NM_015450.3(POT1):c.1595-111A>G
NM_015450.3(POT1):c.1687-5T>A rs35062732
NM_015450.3(POT1):c.1687-98T>G
NM_015450.3(POT1):c.1792+209T>A
NM_015450.3(POT1):c.1803G>A (p.Pro601=) rs754981355
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565
NM_015450.3(POT1):c.21A>T (p.Thr7=)
NM_015450.3(POT1):c.255+218A>G
NM_015450.3(POT1):c.256-64G>A
NM_015450.3(POT1):c.265T>C (p.Tyr89His) rs1131691746
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300
NM_015450.3(POT1):c.546+208G>A
NM_015450.3(POT1):c.547-222C>A
NM_015450.3(POT1):c.702+8A>T rs6959712
NM_015450.3(POT1):c.702+9T>G rs6977407
NM_015450.3(POT1):c.703-233G>A
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439
NM_015450.3(POT1):c.799G>A (p.Gly267Arg) rs1131691987
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.3(POT1):c.870-33A>G
NM_015450.3(POT1):c.879A>G (p.Glu293=) rs759178052
NM_015450.3(POT1):c.9+179A>G
NM_015450.3(POT1):c.9+6A>G rs750242979
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311
NM_015450.3(POT1):c.949+171dup
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502

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