List of variants in gene CDHR1 reported as pathogenic for amino acid metabolism disease

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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: 15

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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.295del (p.Glu99fs)	rs867166472	0.00004
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	rs781781440	0.00002
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)	rs1589313739
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.1A>T (p.Met1Leu)	rs794726954
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

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