ClinVar Miner

List of variants in gene CASQ2, VANGL1 studied for cardiac rhythm disease

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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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_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_001232.4(CASQ2):c.*1123_*1124del rs56839330 0.23414
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
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.*5633T>G rs4348723
NM_138959.3(VANGL1):c.*6763dup rs5777244

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