ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance by Ambry Genetics

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser) rs187977960 0.00107
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala) rs151338614 0.00075
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu) rs147872436 0.00024
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His) rs16830171 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr) rs886038449 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln) rs886054926 0.00002
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys) rs765313781 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164507.2(NEB):c.21397G>A (p.Ala7133Thr)
NM_001164508.2(NEB):c.21490C>T (p.Arg7164Cys)
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21904A>C (p.Asn7302His)
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22109C>G (p.Pro7370Arg)
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22262A>G (p.Lys7421Arg)
NM_001164508.2(NEB):c.22480G>C (p.Val7494Leu)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22538A>T (p.Lys7513Ile)
NM_001164508.2(NEB):c.22595A>G (p.Lys7532Arg)
NM_001164508.2(NEB):c.22630G>A (p.Val7544Met)
NM_001164508.2(NEB):c.22892A>G (p.Gln7631Arg)
NM_001164508.2(NEB):c.23006T>C (p.Ile7669Thr)
NM_001164508.2(NEB):c.23696T>C (p.Leu7899Pro)
NM_001164508.2(NEB):c.23729A>G (p.Lys7910Arg)
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23744T>A (p.Val7915Asp)
NM_001164508.2(NEB):c.23785G>A (p.Val7929Met)
NM_001164508.2(NEB):c.23820A>C (p.Gln7940His)
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.24422G>C (p.Gly8141Ala)
NM_001164508.2(NEB):c.24484T>C (p.Ser8162Pro)
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
NM_001164508.2(NEB):c.24719C>T (p.Thr8240Ile)
NM_001164508.2(NEB):c.24787C>T (p.Arg8263Trp)
NM_001164508.2(NEB):c.24848G>T (p.Arg8283Met)
NM_001164508.2(NEB):c.25276G>A (p.Gly8426Ser)
NM_001164508.2(NEB):c.25534G>C (p.Gly8512Arg)
NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala)

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