ClinVar Miner

List of variants in gene DOCK6 reported as pathogenic for Adams-Oliver syndrome 2

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 0.00010
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter) rs1226716539 0.00001
NM_020812.4(DOCK6):c.4106+1G>A rs1192375765 0.00001
NM_020812.4(DOCK6):c.1300del (p.Gln434fs) rs2147852182
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter) rs1198436520
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) rs397509398
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) rs1555826472
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) rs1232184969
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610

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