ClinVar Miner

List of variants in gene CASZ1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001079843.3(CASZ1):c.3153C>T (p.His1051=) rs140029522 0.00220
NM_001079843.3(CASZ1):c.279C>T (p.Asn93=) rs201761485 0.00160
NM_001079843.3(CASZ1):c.177G>A (p.Ser59=) rs374734504 0.00053
NM_001079843.3(CASZ1):c.2190C>G (p.Ala730=) rs201759266 0.00032
NM_001079843.3(CASZ1):c.2577C>T (p.Pro859=) rs200262732 0.00030
NM_001079843.3(CASZ1):c.2259C>T (p.Ala753=) rs147506563 0.00029
NM_001079843.3(CASZ1):c.3216G>A (p.Pro1072=) rs542476738 0.00019
GRCh37/hg19 1p36.22(chr1:10772501-10923900)x3
NM_001079843.3(CASZ1):c.1131C>T (p.Asp377=)
NM_001079843.3(CASZ1):c.1752C>T (p.Asp584=)
NM_001079843.3(CASZ1):c.1959G>A (p.Glu653=)
NM_001079843.3(CASZ1):c.2097C>T (p.Ser699=)
NM_001079843.3(CASZ1):c.2269G>T (p.Ala757Ser)
NM_001079843.3(CASZ1):c.2396C>T (p.Thr799Met)
NM_001079843.3(CASZ1):c.2755G>A (p.Ala919Thr)
NM_001079843.3(CASZ1):c.3248C>T (p.Ala1083Val)
NM_001079843.3(CASZ1):c.3672T>C (p.Ser1224=)
NM_001079843.3(CASZ1):c.3873C>T (p.Cys1291=)
NM_001079843.3(CASZ1):c.3963G>A (p.Ala1321=)
NM_001079843.3(CASZ1):c.453G>A (p.Ser151=)
NM_001079843.3(CASZ1):c.460G>A (p.Ala154Thr)
NM_001079843.3(CASZ1):c.4617A>G (p.Lys1539=)
NM_001079843.3(CASZ1):c.4692C>T (p.Tyr1564=)
NM_001079843.3(CASZ1):c.480C>T (p.Ser160=)
NM_001079843.3(CASZ1):c.4905G>T (p.Ala1635=)
NM_001079843.3(CASZ1):c.5085GGACGACGACGA[1] (p.1695EDDD[1]) rs778912711

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