ClinVar Miner

List of variants in gene SHROOM4 studied for X-linked intellectual disability, Stocco dos Santos type

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750 0.00022
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala) rs201467037 0.00010
NM_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln) rs782366216 0.00007
NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys) rs782246021 0.00005
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro) rs1557249087 0.00005
NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys) rs373402338 0.00004
NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His) rs781938996 0.00002
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe) rs781981612 0.00002
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys) rs782659789 0.00002
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys) rs782548063 0.00002
NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp) rs782753421 0.00001
NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu) rs121434620 0.00001
NM_020717.5(SHROOM4):c.3942+48T>C rs781925536 0.00001
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) rs781832862 0.00001
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly) rs1931268073
NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser) rs1931266627
NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr) rs1473207542
NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp) rs1931243162
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala) rs1931218179
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr) rs1931184202
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu) rs1313449720
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile) rs782154529
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile) rs1569546782
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu) rs1477304591
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln) rs1929724067
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)
NM_020717.5(SHROOM4):c.3942+1G>A
NM_020717.5(SHROOM4):c.4212+1G>A rs2147209054
NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser) rs1931302115
NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)

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