ClinVar Miner

List of variants in gene RFX5 reported as likely benign for MHC class II deficiency

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.*1413A>C rs368014716 0.00425
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_001025603.2(RFX5):c.1185A>G (p.Gly395=) rs372560621 0.00046
NM_001025603.2(RFX5):c.116+12T>C rs371561606 0.00016
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001025603.2(RFX5):c.354-17G>A rs369304906 0.00016
NM_001025603.2(RFX5):c.116+18C>T rs770400757 0.00013
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_001025603.2(RFX5):c.473+14G>C rs750170207 0.00005
NM_001025603.2(RFX5):c.473+20T>C rs752921480 0.00005
NM_001025603.2(RFX5):c.678C>T (p.Val226=) rs559709373 0.00005
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1455G>A (p.Lys485=) rs543484330 0.00004
NM_001025603.2(RFX5):c.1809C>A (p.Ser603=) rs749723355 0.00004
NM_001025603.2(RFX5):c.387A>G (p.Pro129=) rs200465567 0.00004
NM_001025603.2(RFX5):c.279T>C (p.Tyr93=) rs1041864880 0.00003
NM_001025603.2(RFX5):c.758-20C>T rs1036063384 0.00003
NM_001025603.2(RFX5):c.758-9C>T rs758626785 0.00003
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.261G>A (p.Glu87=) rs370136250 0.00002
NM_001025603.2(RFX5):c.474-12A>G rs374766761 0.00002
NM_001025603.2(RFX5):c.603G>A (p.Val201=) rs776987628 0.00002
NM_001025603.2(RFX5):c.693A>G (p.Leu231=) rs532786569 0.00002
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_001025603.2(RFX5):c.1056C>T (p.Ala352=) rs780507159 0.00001
NM_001025603.2(RFX5):c.1092A>G (p.Thr364=) rs753408194 0.00001
NM_001025603.2(RFX5):c.123C>T (p.Ala41=) rs759231161 0.00001
NM_001025603.2(RFX5):c.1545A>G (p.Ala515=) rs368646297 0.00001
NM_001025603.2(RFX5):c.1638C>T (p.Pro546=) rs145909673 0.00001
NM_001025603.2(RFX5):c.165A>G (p.Lys55=) rs761707138 0.00001
NM_001025603.2(RFX5):c.353+12G>A rs758784766 0.00001
NM_001025603.2(RFX5):c.757+12C>T rs1432405815 0.00001
NM_001025603.2(RFX5):c.765C>T (p.Asp255=) rs774595444 0.00001
NM_001025603.2(RFX5):c.1026G>A (p.Pro342=)
NM_001025603.2(RFX5):c.1041T>C (p.Ser347=)
NM_001025603.2(RFX5):c.1051C>T (p.Leu351=)
NM_001025603.2(RFX5):c.1104T>C (p.Ser368=)
NM_001025603.2(RFX5):c.1113C>T (p.Ala371=)
NM_001025603.2(RFX5):c.116+16A>G
NM_001025603.2(RFX5):c.1188T>G (p.Pro396=)
NM_001025603.2(RFX5):c.1263T>C (p.Gly421=)
NM_001025603.2(RFX5):c.1266C>T (p.Asp422=)
NM_001025603.2(RFX5):c.1323C>T (p.Ala441=) rs1233467888
NM_001025603.2(RFX5):c.150+12G>A
NM_001025603.2(RFX5):c.150+13G>T
NM_001025603.2(RFX5):c.150+15G>A
NM_001025603.2(RFX5):c.150+7G>A
NM_001025603.2(RFX5):c.1521G>A (p.Gly507=)
NM_001025603.2(RFX5):c.1536T>G (p.Ala512=) rs751751399
NM_001025603.2(RFX5):c.1614T>C (p.Thr538=) rs958989841
NM_001025603.2(RFX5):c.1630A>C (p.Arg544=) rs2102058778
NM_001025603.2(RFX5):c.1783T>C (p.Leu595=)
NM_001025603.2(RFX5):c.233+14T>C
NM_001025603.2(RFX5):c.233+19T>A
NM_001025603.2(RFX5):c.233+7T>C rs1301707603
NM_001025603.2(RFX5):c.234-6C>G
NM_001025603.2(RFX5):c.234-6del rs2102067182
NM_001025603.2(RFX5):c.234-9T>C
NM_001025603.2(RFX5):c.282G>A (p.Arg94=)
NM_001025603.2(RFX5):c.315C>T (p.Asp105=) rs1650854499
NM_001025603.2(RFX5):c.33C>T (p.Pro11=) rs2102071618
NM_001025603.2(RFX5):c.354-13C>T
NM_001025603.2(RFX5):c.473+19G>A rs543941460
NM_001025603.2(RFX5):c.474-10_474-9del
NM_001025603.2(RFX5):c.495G>A (p.Arg165=)
NM_001025603.2(RFX5):c.498G>A (p.Arg166=) rs201026596
NM_001025603.2(RFX5):c.555+19del
NM_001025603.2(RFX5):c.556-17G>A
NM_001025603.2(RFX5):c.612G>C (p.Ala204=)
NM_001025603.2(RFX5):c.687C>T (p.Phe229=) rs201848165
NM_001025603.2(RFX5):c.69G>A (p.Glu23=)
NM_001025603.2(RFX5):c.757+19A>C
NM_001025603.2(RFX5):c.795A>G (p.Lys265=) rs2102062698
NM_001025603.2(RFX5):c.828A>T (p.Gly276=) rs2102062593
NM_001025603.2(RFX5):c.840G>A (p.Lys280=)
NM_001025603.2(RFX5):c.858+19C>T
NM_001025603.2(RFX5):c.858+9G>A
NM_001025603.2(RFX5):c.859-13C>G
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_001025603.2(RFX5):c.859-7T>C rs976314428
NM_001025603.2(RFX5):c.859-8C>A
NM_001025603.2(RFX5):c.859-9_859-5del rs1650654563
NM_001025603.2(RFX5):c.891C>T (p.Ala297=)
NM_001025603.2(RFX5):c.939G>A (p.Ser313=) rs1319132683
NM_001025603.2(RFX5):c.958C>T (p.Leu320=)
NM_001025603.2(RFX5):c.960G>A (p.Leu320=) rs2102061456
NM_001025603.2(RFX5):c.975A>G (p.Leu325=)
NM_001025603.2(RFX5):c.996C>G (p.Leu332=)

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