ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_001271208.1(NEB):c.21523-6delA rs56026241
NM_001271208.2(NEB):c.21591C>T (p.His7197=) rs146637177
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21671A>T (p.Tyr7224Phe) rs794727042
NM_001271208.2(NEB):c.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21895G>C (p.Asp7299His) rs780337761
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22266+18G>C rs6721666
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22534G>A (p.Gly7512Ser) rs764674361
NM_001271208.2(NEB):c.22640C>G (p.Pro7547Arg) rs376609115
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23601_23604del (p.Val7868fs)
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23755-5T>G rs773618223
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24871-18C>T rs2288195
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25169G>T (p.Arg8390Leu) rs778972474
NM_001271208.2(NEB):c.25177C>T (p.Arg8393Cys) rs757107530
NM_001271208.2(NEB):c.25246_25247del (p.Met8416fs) rs1472403020
NM_001271208.2(NEB):c.25309A>G (p.Ile8437Val) rs1061305
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25538T>C (p.Met8513Thr) rs141449286
NM_001271208.2(NEB):c.25550C>G (p.Ala8517Gly) rs774603877
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324

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