ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.22591-6A>G rs758209784 0.00004
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.22104A>T (p.Thr7368=) rs756011050 0.00001
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)

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