ClinVar Miner

List of variants studied for Renal hypodysplasia/aplasia 3

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=) rs4800747 0.98335
NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=) rs17720074 0.15290
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) rs1343579561 0.00001
NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile) rs1480442865 0.00001
NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr) rs1031282519 0.00001
NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) rs1308452766 0.00001
NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln) rs1311814599 0.00001
NM_001142966.3(GREB1L):c.157+1del rs2040417979
NM_001142966.3(GREB1L):c.1582del (p.Gln528fs) rs1555649811
NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter) rs1555650110
NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter)
NM_001142966.3(GREB1L):c.1984+3A>C
NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp)
NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys) rs1555654020
NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs)
NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr) rs2036549389
NM_001142966.3(GREB1L):c.3197G>A (p.Arg1066His) rs766987038
NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter) rs1555659101
NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr)
NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter)
NM_001142966.3(GREB1L):c.3970-20A>G rs1353636049
NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs) rs2145944441
NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs) rs2145944530
NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs) rs1555660209
NM_001142966.3(GREB1L):c.4369-1G>C rs1555661907
NM_001142966.3(GREB1L):c.4507C>T (p.Arg1503Trp)
NM_001142966.3(GREB1L):c.4607A>G (p.His1536Arg) rs1555662027
NM_001142966.3(GREB1L):c.4680C>A (p.Tyr1560Ter) rs1555662052
NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro) rs1555662061
NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs)
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr) rs2037388926
NM_001142966.3(GREB1L):c.5246A>T (p.Asp1749Val)
NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg) rs1555664772
NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) rs2144520227
NM_001142966.3(GREB1L):c.5608+1del rs1555665627
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter) rs2037623971
NM_001142966.3(GREB1L):c.570dup (p.Phe191fs)
NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys) rs2144522176
NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val)
NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu)

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