Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786204456
rs786204456
COX6C ; VPS13B
1.000 0.320 8 99875503 frameshift variant CCAGCTGTTCT/G delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 3 2004 2016
dbSNP: rs386834069
rs386834069
COX6C ; VPS13B
1.000 0.320 8 99875502 frameshift variant CCAGCTGTTC/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 2 2004 2009
dbSNP: rs180177374
rs180177374
COX6C ; VPS13B
1.000 0.320 8 99875499 frameshift variant -/C delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs1057517328
rs1057517328
COX6C ; VPS13B
1.000 0.320 8 99875551 frameshift variant -/T delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554590314
rs1554590314
COX6C ; VPS13B
1.000 0.320 8 99875418 frameshift variant -/AGAT delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs372327659
rs372327659
COX6C ; VPS13B
1.000 0.320 8 99875417 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs773094891
rs773094891
COX6C ; VPS13B
1.000 0.320 8 99875510 stop gained T/A;C;G snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs933746831
rs933746831
COX6C ; VPS13B
1.000 0.320 8 99875430 stop gained C/T snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0