ClinVar Miner

List of variants reported as likely pathogenic for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

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Total variants: 13
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NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032504.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) rs869025316
NM_032504.1(UNC80):c.6607G>A (p.Asp2203Asn) rs886041094
NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) rs869025317
NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) rs869025319
NM_032504.1(UNC80):c.8058+2T>G rs1575179679
NM_032504.1(UNC80):c.8574+2T>G rs1553621496

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