ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001164508.2(NEB):c.23929-45A>G rs115394251 0.01183
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.23017-21T>C rs150471104 0.00669
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser) rs187977960 0.00107
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.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.24108T>C (p.Phe8036=) rs748169663 0.00012
NM_001164508.2(NEB):c.21579C>T (p.His7193=) rs372877088 0.00011
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.24570C>T (p.Asn8190=) rs201566336 0.00009
NM_001164508.2(NEB):c.21321T>C (p.Tyr7107=) rs372326115 0.00007
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr) rs886038449 0.00005
NM_001164508.2(NEB):c.22500C>T (p.Phe7500=) rs772294501 0.00004
NM_001164508.2(NEB):c.24058A>G (p.Ile8020Val) rs144634228 0.00003
NM_001164508.2(NEB):c.22785A>G (p.Thr7595=) rs764672920 0.00002
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.23160C>G (p.Val7720=) rs1271111461 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24301-7C>T rs755582434 0.00001
NM_001164508.2(NEB):c.21946-5del
NM_001164508.2(NEB):c.22695+40C>T rs886038448
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.23650-7T>A
NM_001164508.2(NEB):c.24115-143_24115-140del
NM_001164508.2(NEB):c.24673-20T>C rs886038450

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