ClinVar Miner

List of variants in gene RGR studied for amino acid metabolism disease

Included ClinVar conditions (409):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001012720.2(RGR):c.27T>C (p.Thr9=) rs2279227 0.62051
NM_001012720.2(RGR):c.459C>T (p.Tyr153=) rs1042454 0.50840
NM_001012720.2(RGR):c.*65A>G rs3526 0.21588
NM_001012720.2(RGR):c.*416A>G rs11817115 0.11877
NM_001012720.2(RGR):c.19C>T (p.Leu7=) rs11200938 0.06594
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001012720.2(RGR):c.*331C>A rs563165735 0.00113
NM_001012720.2(RGR):c.318T>C (p.Ser106=) rs143761967 0.00093
NM_001012720.2(RGR):c.454C>A (p.His152Asn) rs150808273 0.00081
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr) rs149516779 0.00081
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) rs146536539 0.00044
NM_001012720.2(RGR):c.*200C>T rs764175932 0.00022
NM_001012720.2(RGR):c.385G>A (p.Val129Ile) rs138630905 0.00019
NM_001012720.2(RGR):c.666C>T (p.Leu222=) rs575867273 0.00010
NM_001012720.2(RGR):c.-17A>G rs377314145 0.00008
NM_001012720.2(RGR):c.745-13T>C rs760426665 0.00007
NM_001012720.2(RGR):c.259G>A (p.Gly87Ser) rs369457258 0.00004
NM_001012720.2(RGR):c.34G>A (p.Gly12Arg) rs751874712 0.00004
NM_001012720.2(RGR):c.630+2T>A rs775282095 0.00004
NM_001012720.2(RGR):c.*220C>G rs886047352 0.00003
NM_001012720.2(RGR):c.236G>A (p.Arg79Gln) rs761554381 0.00003
NM_001012720.2(RGR):c.460G>A (p.Asp154Asn) rs750768609 0.00003
NM_001012720.2(RGR):c.612G>A (p.Gly204=) rs749839913 0.00003
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001012720.2(RGR):c.866G>A (p.Arg289Gln) rs768395760 0.00002
NM_001012720.2(RGR):c.*484T>C rs886047353 0.00001
NM_001012720.2(RGR):c.*89C>T rs1182311979 0.00001
NM_001012720.2(RGR):c.328G>A (p.Ala110Thr) rs780231448 0.00001
NM_001012720.2(RGR):c.512+8G>A rs777466420 0.00001
NM_001012720.2(RGR):c.*386C>T rs1842923502
NM_001012720.2(RGR):c.*494G>C rs546408776
NM_001012720.2(RGR):c.*514T>C rs1589338150
NM_001012720.2(RGR):c.358+1G>A rs548051515
NM_001012720.2(RGR):c.359-15C>A rs373630058
NM_001012720.2(RGR):c.481T>G (p.Cys161Gly)
NM_001012720.2(RGR):c.679del (p.Tyr227fs) rs1842908009
NM_001012720.2(RGR):c.750C>A (p.Pro250=) rs748553756
NM_001012720.2(RGR):c.820del (p.Arg274fs) rs1589337745
NM_001012720.2(RGR):c.824dup (p.Ile276fs) rs1842917477

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