ClinVar Miner

List of variants in gene PTS reported as uncertain significance for BH4-deficient hyperphenylalaninemia A

Included ClinVar conditions (1):
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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.*60T>C rs149320135 0.00631
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000317.3(PTS):c.174A>G (p.Thr58=) rs745627441 0.00009
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000317.3(PTS):c.*16T>C rs760097954 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000317.3(PTS):c.151C>T (p.His51Tyr) rs780284884 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.186+9A>G rs202139885 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.*213A>G rs916945270 0.00001
NM_000317.3(PTS):c.106A>G (p.Asn36Asp) rs1374807422 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.211A>G (p.Met71Val) rs1296871450 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.228C>T (p.Leu76=) rs772713545 0.00001
NM_000317.3(PTS):c.289G>A (p.Val97Met) rs750455879 0.00001
NM_000317.3(PTS):c.292C>T (p.Pro98Ser) rs1859964687 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.360A>T (p.Lys120Asn) rs1859970916 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000317.3(PTS):c.*148C>A rs910098440
NM_000317.3(PTS):c.*58G>C rs1307423080
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
NM_000317.3(PTS):c.136C>A (p.Pro46Thr) rs2135408262
NM_000317.3(PTS):c.148G>A (p.Gly50Arg) rs922940879
NM_000317.3(PTS):c.149G>A (p.Gly50Glu) rs2135408273
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser) rs2135408283
NM_000317.3(PTS):c.164-37dup
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.186G>A (p.Glu62=) rs189051075
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
NM_000317.3(PTS):c.209T>A (p.Val70Asp) rs1592880489
NM_000317.3(PTS):c.243+4A>G
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.274A>C (p.Asn92His) rs1859964367
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.326A>G (p.Asn109Ser) rs1361000720
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.402A>C (p.Glu134Asp) rs746993982
NM_000317.3(PTS):c.429A>C (p.Lys143Asn) rs1555198513
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr) rs1859973316

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