ClinVar Miner

List of variants reported as likely benign for Caudal regression sequence

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.*632G>C rs1140238 0.65651
NM_001232.4(CASQ2):c.*482C>T rs7521023 0.63558
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_138959.3(VANGL1):c.*1183del rs3841008 0.25316
NM_001232.4(CASQ2):c.*1123_*1124del rs56839330 0.23414
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001232.4(CASQ2):c.*143G>A rs28730709 0.00217
NM_001232.4(CASQ2):c.*1017del rs11347859
NM_138959.3(VANGL1):c.*3762CAAA[2] rs144395099
NM_138959.3(VANGL1):c.*4089del rs138659832
NM_138959.3(VANGL1):c.*6763dup rs5777244

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