List of variants in gene CPLANE1, LOC129389274 studied for Joubert syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)	rs6859950	0.01291
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)	rs150556877	0.00076
NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)	rs138157520	0.00053
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)	rs183021118	0.00017
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)	rs202103224	0.00016
NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe)	rs138792462	0.00006
NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)	rs1554084360
NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs)	rs1561531833
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr)	rs886060579

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