List of variants in gene AMMECR1 reported as pathogenic for Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	rs765498367
NM_015365.3(AMMECR1):c.454dup (p.Arg152fs)	rs1569405174
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)	rs1057519338
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp)	rs1057519337

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