ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP
NC_000023.11:g.110250890_110665082del
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	rs765498367
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)	rs1057519338
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp)	rs1057519337

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