ClinVar Miner

List of variants reported as likely benign by Diagnostic Laboratory, Strasbourg University Hospital

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001135995.2(ATXN3L):c.865A>T (p.Lys289Ter) rs772014789 0.00003
NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter) rs1064796308 0.00001
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr) rs1312971608 0.00001
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001144967.3(NEDD4L):c.439C>T (p.Arg147Ter) rs748006260
NM_001220.5(CAMK2B):c.1329del (p.Pro444fs) rs2096555926
NM_001291415.2(KDM6A):c.4232A>G (p.Gln1411Arg) rs2046712711
NM_001347721.2(DYRK1A):c.637+4A>T rs2052877663
NM_001374828.1(ARID1B):c.3245G>T (p.Gly1082Val) rs1303647267
NM_001378414.1(HDAC4):c.565C>T (p.Arg189Trp) rs746764988
NM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTG rs2071146308
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe) rs2045919094
NM_016148.5(SHANK1):c.5690G>T (p.Gly1897Val) rs1985505411
NM_021008.4(DEAF1):c.806A>G (p.Asp269Gly) rs1421361308
NM_031407.7(HUWE1):c.3953A>G (p.Asn1318Ser) rs2064214794

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