ClinVar Miner

List of variants studied for Caudal regression sequence by Illumina Laboratory Services, Illumina

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Total variants: 26
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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_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
NM_001232.4(CASQ2):c.*143G>A rs28730709 0.00217
NM_138959.3(VANGL1):c.*3407dup rs752251154 0.00056
NM_138959.3(VANGL1):c.*5351G>A rs762453158 0.00014
NM_138959.3(VANGL1):c.*932dup rs886045124 0.00008
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) rs778860160 0.00003
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.*4731C>T rs144489409
NM_138959.3(VANGL1):c.*4840T>C rs886045144
NM_138959.3(VANGL1):c.*5441TC[3] rs886045147
NM_138959.3(VANGL1):c.*5639_*5640del rs886045148
NM_138959.3(VANGL1):c.*6763dup rs5777244
NM_138959.3(VANGL1):c.*89TTC[2] rs746915495
NM_138959.3(VANGL1):c.-247CGG[6] rs886045116
NM_138959.3(VANGL1):c.-24C>T rs886045118

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