List of variants in gene POT1 reported as likely pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.1506-1G>A	rs1418539002	0.00001
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.108T>G (p.Tyr36Ter)
NM_015450.3(POT1):c.1163+1G>A	rs1562981766
NM_015450.3(POT1):c.124+1G>A
NM_015450.3(POT1):c.125-2A>G	rs1562997292
NM_015450.3(POT1):c.126T>G (p.Asp42Glu)	rs1554429221
NM_015450.3(POT1):c.1369+1G>A
NM_015450.3(POT1):c.1369+1G>T
NM_015450.3(POT1):c.1792+1G>A	rs1562972354
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)	rs758673417
NM_015450.3(POT1):c.1A>G (p.Met1Val)	rs1584510207
NM_015450.3(POT1):c.255+1G>A	rs1584777699
NM_015450.3(POT1):c.255+1G>T	rs1584777699
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)	rs587777472
NM_015450.3(POT1):c.2dup (p.Met1fs)
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
NM_015450.3(POT1):c.347C>T (p.Pro116Leu)	rs1554426966
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)	rs780936436
NM_015450.3(POT1):c.79G>C (p.Gly27Arg)	rs1584791977
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)	rs587777476
NM_015450.3(POT1):c.9+1G>A

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