List of variants in gene CPLANE1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)	rs192335673	0.00009
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala)	rs763642816	0.00004
NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys)	rs200612080	0.00004
NM_001384732.1(CPLANE1):c.3155A>G (p.Lys1052Arg)	rs754271101	0.00003
NM_001384732.1(CPLANE1):c.6557C>T (p.Ser2186Leu)	rs779991759	0.00001
NM_001384732.1(CPLANE1):c.1248T>G (p.Asp416Glu)
NM_001384732.1(CPLANE1):c.1522-3del
NM_001384732.1(CPLANE1):c.3176C>T (p.Pro1059Leu)
NM_001384732.1(CPLANE1):c.4064T>G (p.Leu1355Arg)	rs1784384269
NM_001384732.1(CPLANE1):c.4243A>G (p.Arg1415Gly)
NM_001384732.1(CPLANE1):c.5416A>G (p.Ile1806Val)	rs1472917516
NM_001384732.1(CPLANE1):c.6982C>T (p.Pro2328Ser)	rs755609467
NM_001384732.1(CPLANE1):c.7709C>T (p.Ala2570Val)

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