List of variants in gene POT1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)	rs756198077	0.00004
NM_015450.3(POT1):c.1164-1G>A	rs866612394	0.00002
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)	rs947005337	0.00001
NM_015450.3(POT1):c.10-2A>C	rs1554434788
NM_015450.3(POT1):c.1065dup (p.Ala356fs)	rs1225878757
NM_015450.3(POT1):c.1163+1G>A	rs1562981766
NM_015450.3(POT1):c.125-2A>G	rs1562997292
NM_015450.3(POT1):c.1262C>G (p.Ser421Ter)
NM_015450.3(POT1):c.1369G>T (p.Gly457Ter)	rs2116460981
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)	rs1410842025
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)	rs1794703569
NM_015450.3(POT1):c.161dup (p.Asn54fs)	rs1554429205
NM_015450.3(POT1):c.255G>C (p.Lys85Asn)	rs747851551
NM_015450.3(POT1):c.281_282del (p.Gln94fs)	rs1397398300
NM_015450.3(POT1):c.707del (p.Gly236fs)	rs2116505374
NM_015450.3(POT1):c.709del (p.Ser237fs)	rs2116505365
NM_015450.3(POT1):c.9+1G>C

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