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: 18
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NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) rs932845258
NM_001032221.4(STXBP1):c.1706C>T (p.Ser569Phe) rs1135401819
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_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr)
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn)
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
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_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

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