List of variants in gene CDHR1 reported as pathogenic for cone-rod dystrophy

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)	rs373978786	0.00004
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	rs781781440	0.00002
NM_033100.4(CDHR1):c.56-1G>A	rs751972593	0.00001
NM_033100.4(CDHR1):c.1168-1G>A
NM_033100.4(CDHR1):c.1311_1316del (p.Leu437_Thr438del)
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)	rs1589306127
NM_033100.4(CDHR1):c.1463del (p.Gly488fs)	rs756678484
NM_033100.4(CDHR1):c.1485+2T>G	rs767366723
NM_033100.4(CDHR1):c.1782+1del	rs1589307705
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033100.4(CDHR1):c.338del (p.Gly113fs)	rs747425652
NM_033100.4(CDHR1):c.616del (p.His206fs)	rs1183979115
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)

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