ClinVar Miner

List of variants in gene MACF1 studied for Short stature

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Total variants: 5
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HGVS dbSNP
NM_012090.5(MACF1):c.11812-11C>T rs758773350
NM_012090.5(MACF1):c.12510G>T (p.Trp4170Cys) rs1201537875
NM_012090.5(MACF1):c.16058G>A (p.Arg5353His) rs755081350
NM_012090.5(MACF1):c.3842G>A (p.Arg1281Gln) rs559634261
NM_012090.5(MACF1):c.6296A>G (p.Lys2099Arg) rs1557609859

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