List of variants in gene PCDH15 reported as uncertain significance for inherited retinal dystrophy

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)	rs145017164	0.00081
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	rs111033363	0.00054
NM_001384140.1(PCDH15):c.3718-3C>G	rs755749920	0.00003
NM_001384140.1(PCDH15):c.2069C>T (p.Ala690Val)	rs778066232	0.00001
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)	rs763251067	0.00001
NM_001384140.1(PCDH15):c.1881A>T (p.Glu627Asp)
NM_001384140.1(PCDH15):c.2110A>T (p.Asn704Tyr)
NM_001384140.1(PCDH15):c.4162T>A (p.Cys1388Ser)
NM_001384140.1(PCDH15):c.4202+5G>A	rs886047063
NM_001384140.1(PCDH15):c.4326_4328dup (p.Pro1443_Gly1444insPro)
NM_033056.4(PCDH15):c.5282_5308del (p.Ala1761_Pro1769del)	rs757865295
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)	rs111033445

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