ClinVar Miner

List of variants in gene CD96 studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005816.5(CD96):c.807+14A>C rs144245769 0.00245
NM_005816.5(CD96):c.*172G>T rs886057770 0.00016
NM_005816.5(CD96):c.*844A>G rs886057776 0.00006
NM_005816.5(CD96):c.*1364G>A rs368097665 0.00003
NM_005816.5(CD96):c.*869G>C rs566078679 0.00001
NM_005816.5(CD96):c.791C>T (p.Thr264Met) rs119477056 0.00001
46,XY t(3;18)(q13.13;q12.1)
NM_005816.5(CD96):c.*2076del rs886057782
NM_005816.5(CD96):c.*2092_*2093insGAA rs557338377
NM_005816.5(CD96):c.*2092_*2093insGAAAGAA rs557338377
NM_005816.5(CD96):c.*2093_*2097del rs771511889
NM_005816.5(CD96):c.*2093del rs200341777
NM_005816.5(CD96):c.*2094del rs886057786
NM_005816.5(CD96):c.1181-12T>C
NM_005816.5(CD96):c.1249+1G>A
NM_005816.5(CD96):c.1390A>G (p.Asn464Asp) rs1939421281
NM_005816.5(CD96):c.1618C>T (p.Pro540Ser) rs1939992902
NM_005816.5(CD96):c.544-1477_544-1459del rs2107579299
NM_005816.5(CD96):c.54dup (p.Val19fs) rs200703204
NM_005816.5(CD96):c.718dup (p.Ile240fs) rs766366613
NM_005816.5(CD96):c.794A>G (p.Asp265Gly) rs1936662124
NM_005816.5(CD96):c.934del (p.Asp312fs) rs1937457440

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