ClinVar Miner

List of variants in gene combination LOC126861615, PAH reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.886G>A (p.Asp296Asn) rs765934604 0.00003
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.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
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.868C>T (p.His290Tyr) rs1486763160
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.878del (p.Leu293fs)
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
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.899C>G (p.Ala300Gly)
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
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.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+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583

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