ClinVar Miner

List of variants in gene MBD5 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu)
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) rs1481914876

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