List of variants in gene PCDH15 reported as uncertain significance for Usher syndrome type 1D

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	rs111033363	0.00054
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)	rs139175351	0.00026
NM_001384140.1(PCDH15):c.4672-1564T>C	rs193186244	0.00019
NM_001384140.1(PCDH15):c.4671+1355A>G	rs372184022	0.00011
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)	rs750009006	0.00002
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=)	rs749666237	0.00001
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)	rs777886341	0.00001
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del	rs2132368553
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)	rs775845546
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)	rs1194313858
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])	rs397517465
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)	rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)	rs2076305966

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