ClinVar Miner

List of variants reported as likely pathogenic by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris

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Total variants: 14
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HGVS dbSNP
NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) rs932845258
NM_001040142.2(SCN2A):c.4160_4161del (p.Lys1387fs) rs1135401811
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg) rs1569459580
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003165.4(STXBP1):c.*20C>T rs1135401819
NM_006348.3(COG5):c.2324C>T (p.Pro775Leu) rs1135401817
NM_014491.4(FOXP2):c.1769+2T>C rs1135401820
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp) rs1135401818
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter) rs759380520
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152989.5(SOX5):c.1856C>A (p.Thr619Asn) rs1135401816

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