ClinVar Miner

List of variants studied for Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

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Total variants: 6
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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
Single allele
t(X;9)(q23;q12)dn

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