ClinVar Miner

List of variants in gene CAV3 studied for congenital heart disease

Included ClinVar conditions (290):
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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys) rs139786391 0.00011
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_033337.3(CAV3):c.109G>C (p.Val37Leu) rs374523166 0.00004
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys) rs199476325 0.00003
NM_033337.3(CAV3):c.30G>A (p.Glu10=) rs587780883 0.00002
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg) rs760170984 0.00002
NM_033337.3(CAV3):c.114+11C>T rs779911803 0.00001
NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr) rs963028152 0.00001
NM_033337.3(CAV3):c.60G>A (p.Lys20=) rs972788554 0.00001
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) rs763666060 0.00001
NM_033337.3(CAV3):c.6_7del (p.Met2fs) rs1060502318 0.00001
NM_033337.3(CAV3):c.88A>C (p.Lys30Gln) rs730880425 0.00001
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg) rs753431407 0.00001
NM_033337.3(CAV3):c.-33G>T rs72546666
NM_033337.3(CAV3):c.103G>C (p.Asp35His)
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.110T>C (p.Val37Ala) rs886039060
NM_033337.3(CAV3):c.114+16C>T
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.114+3A>G
NM_033337.3(CAV3):c.114+5G>C rs1354029651
NM_033337.3(CAV3):c.114+8C>G rs987275270
NM_033337.3(CAV3):c.17A>T (p.His6Leu) rs1233979640
NM_033337.3(CAV3):c.19A>G (p.Thr7Ala)
NM_033337.3(CAV3):c.22G>A (p.Asp8Asn) rs2124977121
NM_033337.3(CAV3):c.27C>G (p.Leu9=) rs1974763
NM_033337.3(CAV3):c.32C>T (p.Ala11Val) rs867194464
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) rs1707652057
NM_033337.3(CAV3):c.36G>T (p.Gln12His) rs1553613127
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn) rs1707652520
NM_033337.3(CAV3):c.50T>C (p.Ile17Thr)
NM_033337.3(CAV3):c.53A>G (p.His18Arg) rs730880424
NM_033337.3(CAV3):c.54C>T (p.His18=) rs775054657
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_033337.3(CAV3):c.58A>C (p.Lys20Gln)
NM_033337.3(CAV3):c.58A>G (p.Lys20Glu) rs1707653132
NM_033337.3(CAV3):c.5T>C (p.Met2Thr) rs375301072
NM_033337.3(CAV3):c.63G>A (p.Glu21=) rs1417709772
NM_033337.3(CAV3):c.71T>C (p.Leu24Pro) rs1707653769
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) rs199476324
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter) rs199476324
NM_033337.3(CAV3):c.7G>A (p.Ala3Thr) rs1291499448
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778
NM_033337.3(CAV3):c.85C>T (p.Pro29Ser) rs116840785
NM_033337.3(CAV3):c.86C>A (p.Pro29His) rs116840786
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu) rs116840786
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys) rs1008642
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys) rs1008642
NM_033337.3(CAV3):c.99_102delinsT (p.Glu34del) rs1559640153
NM_033337.3(CAV3):c.9A>G (p.Ala3=) rs2124977096

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