ClinVar Miner

List of variants in gene LOC126861615, PAH studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000277.3(PAH):c.886G>A (p.Asp296Asn) rs765934604 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.894C>T (p.Ser298=) rs765823928 0.00003
NM_000277.3(PAH):c.861G>A (p.Leu287=) rs754686336 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 0.00002
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.859C>A (p.Leu287Met) rs781096854 0.00001
NM_000277.3(PAH):c.859C>G (p.Leu287Val) rs781096854 0.00001
NM_000277.3(PAH):c.865G>A (p.Gly289Arg) rs199475693 0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.3(PAH):c.510-735_912+434del
NM_000277.3(PAH):c.843-11C>G
NM_000277.3(PAH):c.843-13_843-10del rs2136645010
NM_000277.3(PAH):c.843-1G>A rs1373264140
NM_000277.3(PAH):c.843-2A>T rs62509019
NM_000277.3(PAH):c.843-5T>C rs1875163630
NM_000277.3(PAH):c.843-6T>C rs2136645004
NM_000277.3(PAH):c.843-8T>C rs2136645006
NM_000277.3(PAH):c.843-9G>C rs2136645008
NM_000277.3(PAH):c.843T>A (p.Pro281=)
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
NM_000277.3(PAH):c.847A>G (p.Ile283Val) rs62517168
NM_000277.3(PAH):c.850T>C (p.Cys284Arg) rs199475682
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.858G>A (p.Glu286=) rs556021587
NM_000277.3(PAH):c.861G>T (p.Leu287=) rs754686336
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.865G>C (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.867A>T (p.Gly289=)
NM_000277.3(PAH):c.868C>T (p.His290Tyr) rs1486763160
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>A (p.His290Gln)
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.871G>T (p.Val291Leu) rs1875160008
NM_000277.3(PAH):c.873_880del (p.Pro292fs)
NM_000277.3(PAH):c.876C>A (p.Pro292=)
NM_000277.3(PAH):c.878del (p.Leu293fs)
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000277.3(PAH):c.884C>G (p.Ser295Ter) rs62642910
NM_000277.3(PAH):c.886G>C (p.Asp296His) rs765934604
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.888T>C (p.Asp296=)
NM_000277.3(PAH):c.890G>T (p.Arg297Leu) rs62642939
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.896T>C (p.Phe299Ser) rs62642933
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.901C>T (p.Gln301Ter) rs1057520732
NM_000277.3(PAH):c.901del (p.Gln301fs)
NM_000277.3(PAH):c.902A>C (p.Gln301Pro) rs1592952183
NM_000277.3(PAH):c.903G>T (p.Gln301His) rs1592952179
NM_000277.3(PAH):c.907T>C (p.Ser303Pro) rs199475608
NM_000277.3(PAH):c.907T>G (p.Ser303Ala) rs199475608
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.910C>A (p.Gln304Lys) rs1555204295
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.911A>G (p.Gln304Arg) rs199475592
NM_000277.3(PAH):c.912+15T>G
NM_000277.3(PAH):c.912+16T>A rs1875152576
NM_000277.3(PAH):c.912+18dup
NM_000277.3(PAH):c.912+1G>C rs62514956
NM_000277.3(PAH):c.912+1G>T rs62514956
NM_000277.3(PAH):c.912+20G>T
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912+9T>C
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583

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