ClinVar Miner

List of variants reported as pathogenic for Renal hypodysplasia/aplasia 3 by OMIM

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Total variants: 13
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NM_001142966.2(GREB1L):c.1582del (p.Gln528fs) rs1555649811
NM_001142966.2(GREB1L):c.1780G>T (p.Glu594Ter) rs1555650110
NM_001142966.2(GREB1L):c.2251C>T (p.Arg751Cys) rs1555654020
NM_001142966.2(GREB1L):c.3295C>T (p.Gln1099Ter) rs1555659101
NM_001142966.2(GREB1L):c.4000dup (p.Leu1334fs) rs1555660209
NM_001142966.2(GREB1L):c.4369-1G>C rs1555661907
NM_001142966.2(GREB1L):c.4607A>G (p.His1536Arg) rs1555662027
NM_001142966.2(GREB1L):c.4680C>A (p.Tyr1560Ter) rs1555662052
NM_001142966.2(GREB1L):c.4700T>C (p.Leu1567Pro) rs1555662061
NM_001142966.2(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.2(GREB1L):c.5378T>G (p.Leu1793Arg) rs1555664772
NM_001142966.2(GREB1L):c.5608+1del rs1555665627
NM_001142966.2(GREB1L):c.983G>A (p.Arg328Gln) rs1311814599

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