ClinVar Miner

List of variants reported as likely benign for spina bifida by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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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.*3544C>T rs74117023 0.01618
NM_138959.3(VANGL1):c.*3336G>A rs61732170 0.01470
NM_138959.3(VANGL1):c.-239G>A rs563855412 0.00806
NM_138959.3(VANGL1):c.*1652C>T rs146512242 0.00738
NM_138959.3(VANGL1):c.*5444C>G rs142497673 0.00486
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_138959.3(VANGL1):c.*3653C>T rs146435279 0.00442
NM_138959.3(VANGL1):c.*2865A>G rs114921471 0.00424
NM_138959.3(VANGL1):c.345C>T (p.Val115=) rs79828493 0.00413
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=) rs41275546 0.00358
NM_001232.4(CASQ2):c.*143G>A rs28730709 0.00217
NM_138959.3(VANGL1):c.*1772A>G rs114033235 0.00199
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) rs141673853 0.00154
NM_138959.3(VANGL1):c.*383C>G rs75277108 0.00153
NM_138959.3(VANGL1):c.*2187T>C rs146730302 0.00061
NM_138959.3(VANGL1):c.*47G>T rs190792695 0.00039
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg) rs200389969 0.00009
NM_138959.3(VANGL1):c.*707C>T rs562969850 0.00005
NM_138959.3(VANGL1):c.*2344A>C rs531884184 0.00001
NM_001232.4(CASQ2):c.*1017del rs11347859
NM_005957.5(MTHFR):c.*4074_*4077del rs55780505
NM_138959.3(VANGL1):c.*3762CAAA[2] rs144395099
NM_138959.3(VANGL1):c.*4089del rs138659832
NM_138959.3(VANGL1):c.*4788C>G rs148437823
NM_138959.3(VANGL1):c.*5008T>A rs117347999
NM_138959.3(VANGL1):c.*6763dup rs5777244

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