ClinVar Miner

List of variants in gene UBR4 reported as likely pathogenic for Short stature

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Total variants: 5
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HGVS dbSNP
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His) rs747867083
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) rs144709443
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser) rs748323629

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