ClinVar Miner

List of variants in gene CAVIN4 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys) rs114540433 0.00084
NM_001018116.2(CAVIN4):c.519G>C (p.Ser173=) rs145794010 0.00035
NM_001018116.2(CAVIN4):c.939G>A (p.Glu313=) rs778284038 0.00010
NM_001018116.2(CAVIN4):c.84C>T (p.Asp28=) rs745781742 0.00003
NM_001018116.2(CAVIN4):c.1005C>T (p.Pro335=) rs565406194 0.00002
NM_001018116.2(CAVIN4):c.702_722del (p.234_240LRQSGER[2]) rs876657508
NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=) rs876657509

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