ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign by GeneDx

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Total variants: 61
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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.24056C>T (p.Pro8019Leu) rs189655274 0.00280
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
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.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser) rs187977960 0.00107
NM_001164508.2(NEB):c.21840+13A>C rs75515097 0.00104
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=) rs376897146 0.00076
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala) rs151338614 0.00075
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.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.23242-15G>A rs370467068 0.00021
NM_001164508.2(NEB):c.21371G>A (p.Arg7124His) rs201094791 0.00020
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His) rs16830171 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.23742+11T>C rs374368246 0.00013
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.24207+17G>C rs373742185 0.00011
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.24623T>G (p.Phe8208Cys) rs376664167 0.00009
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.23346+13G>A rs564325749 0.00005
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.23854T>C (p.Leu7952=) rs763873161 0.00004
NM_001164508.2(NEB):c.21862G>C (p.Glu7288Gln) rs768693028 0.00002
NM_001164508.2(NEB):c.23835+14T>G rs754114947 0.00002
NM_001164508.2(NEB):c.24208-10T>C rs1061322 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24645G>A (p.Val8215=) rs769610035 0.00002
NM_001164508.2(NEB):c.21513A>C (p.Gln7171His) rs542149432 0.00001
NM_001164508.2(NEB):c.21715G>A (p.Ala7239Thr) rs752957835 0.00001
NM_001164508.2(NEB):c.22374+20G>C rs764649803 0.00001
NM_001164508.2(NEB):c.24202A>G (p.Ser8068Gly) rs897454282 0.00001
NM_001164508.2(NEB):c.24487-4A>G rs767852758 0.00001
NM_001164508.2(NEB):c.24738T>C (p.Ala8246=) rs1057524338 0.00001
NM_001164508.2(NEB):c.21510A>G (p.Lys7170=) rs1216670824
NM_001164508.2(NEB):c.21630+7A>G rs1576455408
NM_001164508.2(NEB):c.21631-14_21631-13del rs778841804
NM_001164508.2(NEB):c.21736-19TC[2] rs752810060
NM_001164508.2(NEB):c.21945+13T>C rs1553649614
NM_001164508.2(NEB):c.22050+20G>A rs758004610
NM_001164508.2(NEB):c.22480-17T>G rs1553632257
NM_001164508.2(NEB):c.24301-19T>A rs940899832
NM_001164508.2(NEB):c.24519C>T (p.Thr8173=) rs748978197
NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys) rs121913662
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915

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