ClinVar Miner

List of variants reported for Renal agenesis and hypodysplasia by Yale Center for Mendelian Genomics, Yale University

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His) rs1372640211 0.00002
NM_001142966.3(GREB1L):c.2281G>C (p.Glu761Gln) rs1465443065 0.00001
NM_001142966.3(GREB1L):c.4843G>A (p.Val1615Ile) rs1409376788 0.00001
NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly) rs1598859662
NM_001142966.3(GREB1L):c.3197G>C (p.Arg1066Pro) rs766987038
NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter) rs777707946
NM_001142966.3(GREB1L):c.383G>A (p.Arg128His) rs1598751507
NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala) rs1598947815
NM_001142966.3(GREB1L):c.4964T>C (p.Ile1655Thr) rs1598958721
NM_001142966.3(GREB1L):c.4991A>C (p.Tyr1664Ser) rs1598958773
NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val) rs1598769185

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