ClinVar Miner

List of variants reported as likely pathogenic for Okur-Chung neurodevelopmental syndrome

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 20p13(chr20:378136-547319)x1
NM_177559.3(CSNK2A1):c.117C>A (p.Tyr39Ter) rs749626453
NM_177559.3(CSNK2A1):c.137G>T (p.Gly46Val) rs2122559628
NM_177559.3(CSNK2A1):c.143G>A (p.Gly48Asp) rs868337994
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)
NM_177559.3(CSNK2A1):c.152G>A (p.Ser51Asn)
NM_177559.3(CSNK2A1):c.153T>A (p.Ser51Arg) rs1555764992
NM_177559.3(CSNK2A1):c.154G>A (p.Glu52Lys) rs2018549058
NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val) rs1568532361
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177559.3(CSNK2A1):c.319C>T (p.Arg107Ter) rs768238678
NM_177559.3(CSNK2A1):c.367-1G>A rs2018375840
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His) rs1568512728
NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr) rs1568512728
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg) rs2018334830
NM_177559.3(CSNK2A1):c.481A>G (p.Asn161Asp) rs2018334698
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp) rs2122521881
NM_177559.3(CSNK2A1):c.580T>C (p.Ser194Pro)
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177559.3(CSNK2A1):c.584G>C (p.Arg195Pro) rs2122521678
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.704G>T (p.Gly235Val)
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter) rs1380843831
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491

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