ClinVar Miner

List of variants reported as benign by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.178+22A>G rs231020 0.59479
NM_000304.4(PMP22):c.179-83T>C rs230950 0.56915
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_000304.4(PMP22):c.319+33C>T rs3744333 0.06039
NM_001353921.2(ARHGEF9):c.1322-49T>G rs56401522 0.03802
NM_000304.4(PMP22):c.-34-216C>T rs151105938 0.01865
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.414-17del rs61753982

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