ClinVar Miner

List of variants in gene ARHGEF28 reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001177693.2(ARHGEF28):c.1680A>G (p.Ser560=) rs2973568 0.67364
NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=) rs7716253 0.60447
NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln) rs6453022 0.55954
NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg) rs7714670 0.42107
NM_001177693.2(ARHGEF28):c.1024+12C>T rs2973548 0.41313
NM_001177693.2(ARHGEF28):c.4920T>A (p.His1640Gln) rs1478453 0.37320
NM_001177693.2(ARHGEF28):c.2283C>T (p.Gly761=) rs2931423 0.28939
NM_001177693.2(ARHGEF28):c.2338C>A (p.His780Asn) rs2973558 0.28523
NM_001177693.2(ARHGEF28):c.4948+11554C>T rs423333 0.27992
NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu) rs2973571 0.23875
NM_001177693.2(ARHGEF28):c.1754G>A (p.Arg585Lys) rs2973566 0.22869
NM_001177693.2(ARHGEF28):c.964-7C>T rs73118524 0.19341
NM_001177693.2(ARHGEF28):c.3018C>T (p.Tyr1006=) rs3749645 0.13477
NM_001177693.2(ARHGEF28):c.823A>C (p.Arg275=) rs10473959 0.04557
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) rs78992879 0.03856
NM_001177693.2(ARHGEF28):c.4642C>T (p.Pro1548Ser) rs17634865 0.03732
NM_001177693.2(ARHGEF28):c.4388G>A (p.Arg1463Gln) rs17634853 0.03585
NM_001177693.2(ARHGEF28):c.4114-15A>G rs372759519 0.00041
NM_001177693.2(ARHGEF28):c.2297+16= rs2931422

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