ClinVar Miner

List of variants in gene SHANK2 studied for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128 0.00372
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu) rs199717803 0.00026
NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=) rs147288898 0.00022
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574 0.00014
NM_012309.5(SHANK2):c.451G>T (p.Asp151Tyr) rs967203648 0.00010
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) rs781890061 0.00004
NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile) rs781958792 0.00004
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) rs374476702 0.00004
NM_012309.5(SHANK2):c.1854-19C>T rs1228203963 0.00001
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) rs782309898 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) rs548275131 0.00001
NG_042866.2:g.(460061_462693)_(532018_533659)del
NG_042866.2:g.496951_616776del
NM_012309.5(SHANK2):c.1174+30434A>C rs2135521960
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
NM_012309.5(SHANK2):c.1742del (p.Glu581fs)
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_012309.5(SHANK2):c.1927G>A (p.Gly643Arg) rs2134275180
NM_012309.5(SHANK2):c.2198-1G>A
NM_012309.5(SHANK2):c.2247dup (p.Lys750fs) rs2135822551
NM_012309.5(SHANK2):c.2308+1G>A rs2135811944
NM_012309.5(SHANK2):c.2310dup (p.Lys771Ter)
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.5(SHANK2):c.2435_2436del (p.Met812fs)
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter) rs2058867660
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) rs2135739220
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) rs781863842
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) rs1591488559
NM_012309.5(SHANK2):c.3953_3958delinsGC (p.Thr1318fs)
NM_012309.5(SHANK2):c.4604del (p.Asp1535fs)
NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter) rs1327654017
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) rs1555152736
NM_012309.5(SHANK2):c.5156_5157del (p.Lys1719fs)
NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs)
NM_012309.5(SHANK2):c.601dup (p.Leu201fs) rs1555094999
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) rs1951573835
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)

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