List of variants in gene AMER1 reported as pathogenic for Osteopathia striata with cranial sclerosis

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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: 14

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.(64175170_64275169)del
NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter)	rs2147089265
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)	rs137852216
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	rs137852217
NM_152424.4(AMER1):c.1267del (p.Leu423fs)	rs398122877
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)	rs1930251154
NM_152424.4(AMER1):c.179_180del (p.Phe60fs)	rs2147091121
NM_152424.4(AMER1):c.429T>A (p.Cys143Ter)	rs387906722
NM_152424.4(AMER1):c.555_556del (p.Gly186_Ala187insTer)	rs1930280217
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)	rs1602068260
NM_152424.4(AMER1):c.671del (p.Pro224fs)	rs1569192315
NM_152424.4(AMER1):c.780dup (p.Pro261fs)	rs1569192251
NM_152424.4(AMER1):c.811C>T (p.Gln271Ter)	rs387907269
NM_152424.4(AMER1):c.877del (p.Lys292_Val293insTer)

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