ClinVar Miner

List of variants reported for Polyposis syndrome, hereditary mixed, 1 by Genomic Center, National Cancer Institute

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu) rs773771416 0.00001
NM_000059.4(BRCA2):c.2514del (p.Lys838fs) rs886040433
NM_000059.4(BRCA2):c.3440del (p.Asn1147fs)
NM_000059.4(BRCA2):c.3935del (p.Asn1312fs)
NM_000059.4(BRCA2):c.4468del (p.Ile1490fs)
NM_000059.4(BRCA2):c.4997del (p.Asn1666fs)
NM_000059.4(BRCA2):c.9799_9800del (p.Lys3267fs)
NM_000059.4(BRCA2):c.9981del (p.Lys3327fs)
NM_001903.5(CTNNA1):c.1392del (p.Ile465fs) rs2150233636
NM_001903.5(CTNNA1):c.1479del (p.Lys493fs) rs1762114658
NM_001903.5(CTNNA1):c.1559del (p.Leu520fs) rs2150287805
NM_001903.5(CTNNA1):c.1715T>C (p.Val572Ala) rs2150289732
NM_001903.5(CTNNA1):c.235del (p.Ile79fs) rs2149656665
NM_001903.5(CTNNA1):c.2665A>G (p.Lys889Glu) rs1766015674
NM_007294.4(BRCA1):c.1015_1016del (p.Lys339fs)

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