ClinVar Miner

List of variants in gene SPEF2 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024867.4(SPEF2):c.2800G>C (p.Ala934Pro) rs13170390 0.75205
NM_024867.4(SPEF2):c.2711C>T (p.Ala904Val) rs13170082 0.75201
NM_024867.4(SPEF2):c.579T>C (p.Ile193=) rs7706444 0.69286
NM_024867.4(SPEF2):c.211A>C (p.Asn71His) rs6897513 0.59724
NM_024867.4(SPEF2):c.861C>T (p.Asp287=) rs2270558 0.59301
NM_024867.4(SPEF2):c.2142T>C (p.Asn714=) rs6451206 0.54517
NM_024867.4(SPEF2):c.3331-11T>C rs11957963 0.53280
NM_024867.4(SPEF2):c.1848T>A (p.Asn616Lys) rs7710284 0.27805
NM_024867.4(SPEF2):c.1498G>A (p.Asp500Asn) rs34708521 0.08098
NM_024867.4(SPEF2):c.1983T>C (p.Asn661=) rs78576797 0.02708
NM_024867.4(SPEF2):c.2840-13G>A rs115898419 0.01738

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