ClinVar Miner

List of variants reported as uncertain significance for not specified by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_004840.3(ARHGEF6):c.553G>A (p.Asp185Asn) rs755769516 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_001001344.3(ATP2B3):c.2434-3C>A rs371525355
NM_017668.3(NDE1):c.623C>T (p.Ala208Val) rs587783867
NM_024027.5(COLEC11):c.-26-701G>C rs786205631

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