ClinVar Miner

List of variants in gene MBD5 reported by New York Genome Center

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052

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