List of variants in gene CPLANE1 reported as likely pathogenic for Orofaciodigital syndrome type 6

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter)	rs1200574734	0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)	rs869312898	0.00001
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val)	rs2150361119
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter)	rs2150954061
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)	rs863225159
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)	rs1579740974

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