ClinVar Miner

List of variants reported as likely pathogenic for not provided by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_001061.7(TBXAS1):c.90-1G>C rs765686939 0.00001
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile) rs773004449 0.00001
NM_001374828.1(ARID1B):c.3704G>A (p.Gly1235Asp) rs864309615
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015340.4(LARS2):c.2263C>T (p.Gln755Ter) rs879255408
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_018684.4(ZC4H2):c.608G>T (p.Cys203Phe) rs879255362
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_152296.5(ATP1A3):c.958G>A (p.Ala320Thr) rs879255368
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505

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