ClinVar Miner

List of variants in gene ANKLE2 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015114.3(ANKLE2):c.1421-138G>C rs7132253 0.62342
NM_015114.3(ANKLE2):c.1700+48A>G rs10747081 0.62271
NM_015114.3(ANKLE2):c.1594-93A>G rs10781637 0.61828
NM_015114.3(ANKLE2):c.641-35T>A rs7304425 0.48411
NM_015114.3(ANKLE2):c.2159G>A (p.Arg720His) rs10781634 0.29679
NM_015114.3(ANKLE2):c.364C>T (p.His122Tyr) rs1132375 0.28969
NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys) rs78905764 0.05652
NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala) rs77646743 0.05652
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr) rs865818494 0.00053
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp) rs753976276 0.00001
NC_000012.11:g.(133319863_133324417)_(133338419_?)del
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met) rs117750374
NM_015114.3(ANKLE2):c.1184G>A (p.Arg395His)
NM_015114.3(ANKLE2):c.1202A>G (p.Asp401Gly) rs2136158180
NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys) rs1334824087
NM_015114.3(ANKLE2):c.1700+104G>C rs10781636
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) rs1380982250
NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA
NM_015114.3(ANKLE2):c.1891+84G>A rs7969633
NM_015114.3(ANKLE2):c.1892-127_1892-65del rs1555235999
NM_015114.3(ANKLE2):c.2495C>G (p.Ser832Ter)
NM_015114.3(ANKLE2):c.473G>T (p.Gly158Val)
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) rs1185537869
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)
NM_015114.3(ANKLE2):c.997C>T (p.Pro333Ser)

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