ClinVar Miner

List of variants studied for Okur-Chung neurodevelopmental syndrome

Included ClinVar conditions (1):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_177559.3(CSNK2A1):c.101+165G>A rs74119 0.82424
NM_177559.3(CSNK2A1):c.1061-9T>C rs371565154 0.00031
NM_177559.3(CSNK2A1):c.62G>A (p.Arg21Gln) rs1402734448 0.00001
GRCh37/hg19 20p13(chr20:378136-547319)x1
NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro) rs2133068626
NM_177559.3(CSNK2A1):c.102-3C>T
NM_177559.3(CSNK2A1):c.102-7T>A
NM_177559.3(CSNK2A1):c.1066T>A (p.Ser356Thr) rs2018014572
NM_177559.3(CSNK2A1):c.1088C>A (p.Pro363His) rs1193280723
NM_177559.3(CSNK2A1):c.1145C>T (p.Pro382Leu) rs1064796883
NM_177559.3(CSNK2A1):c.117C>A (p.Tyr39Ter) rs749626453
NM_177559.3(CSNK2A1):c.127C>T (p.Arg43Ter)
NM_177559.3(CSNK2A1):c.137G>T (p.Gly46Val) rs2122559628
NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) rs886041956
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.143G>A (p.Gly48Asp) rs868337994
NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser) rs869312849
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.366+9T>C
NM_177559.3(CSNK2A1):c.367-1G>A rs2018375840
NM_177559.3(CSNK2A1):c.376del (p.Gln126fs) rs2018375147
NM_177559.3(CSNK2A1):c.385A>G (p.Thr129Ala)
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter) rs2122537652
NM_177559.3(CSNK2A1):c.458T>G (p.Met153Arg) rs2122532009
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.472A>G (p.Lys158Glu) rs2018334971
NM_177559.3(CSNK2A1):c.476C>A (p.Pro159His) rs2122531965
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.524A>G (p.Asp175Gly) rs869312848
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser) rs1555762734
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp) rs2122521881
NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)
NM_177559.3(CSNK2A1):c.584G>A (p.Arg195Gln)
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.809A>G (p.Asn270Ser)
NM_177559.3(CSNK2A1):c.824+2T>C rs869312846
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter) rs1380843831
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491
NM_177559.3(CSNK2A1):c.955A>G (p.Met319Val)
NM_177559.3(CSNK2A1):c.96del (p.Glu32fs) rs1600392059

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