List of variants in gene CDH23 reported as pathogenic by GeneDx

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	rs111033270	0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	rs111033271	0.00010
NM_022124.6(CDH23):c.6050-15G>A	rs373838930	0.00006
NM_022124.6(CDH23):c.6050-9G>A	rs367928692	0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	rs397517329	0.00004
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	rs750027965	0.00002
NM_022124.6(CDH23):c.2289+1G>A	rs769433759	0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)	rs1278603247	0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	rs121908354	0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)	rs1190307769	0.00001
NM_022124.6(CDH23):c.1087del (p.Val363fs)	rs747955135
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	rs750803248
NM_022124.6(CDH23):c.193del (p.Leu65fs)	rs796051861
NM_022124.6(CDH23):c.2329_2330del (p.Thr777fs)	rs775093336
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)	rs1039517349
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)	rs1853882557
NM_022124.6(CDH23):c.288+1G>C	rs1057520661
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)	rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)	rs759981467
NM_022124.6(CDH23):c.6402_6405del (p.Glu2135fs)	rs55947063
NM_022124.6(CDH23):c.6682del (p.Glu2228fs)	rs1554874884
NM_022124.6(CDH23):c.7660+1G>T	rs1057520662
NM_022124.6(CDH23):c.8222C>A (p.Ser2741Ter)	rs1554876990
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)	rs1841773052
NM_022124.6(CDH23):c.8464dup (p.Asp2822fs)
NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs)	rs1064795044
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)	rs397517367

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