ClinVar Miner

List of variants in gene PAH reported as benign

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.510-217C>T rs2251897 0.88934
NM_000277.3(PAH):c.1200-186T>C rs798709 0.88875
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_000277.3(PAH):c.510-303C>T rs2251894 0.65652
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_000277.3(PAH):c.442-193A>G rs2133298 0.41717
NM_000277.3(PAH):c.442-167A>G rs2247836 0.38795
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_000277.3(PAH):c.1066-236C>T rs772896 0.36069
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758 0.35009
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34771
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_000277.3(PAH):c.1200-251C>T rs2245360 0.30400
NM_000277.3(PAH):c.61-345T>C rs1498688 0.24218
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_000277.3(PAH):c.970-195G>A rs1072528 0.21740
NM_000277.3(PAH):c.969+221T>G rs2270729 0.21739
NM_000277.3(PAH):c.1065+97G>A rs12580432 0.21736
NM_000277.3(PAH):c.1066-193G>C rs10860928 0.21722
NM_000277.3(PAH):c.1065+205A>T rs10860929 0.21721
NM_000277.3(PAH):c.1065+156T>G rs10860930 0.21631
NM_000277.3(PAH):c.1065+155T>C rs10860931 0.21630
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.1199+264G>A rs2242381 0.19800
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000277.3(PAH):c.509+101A>C rs10860933 0.18689
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897 0.15047
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_001354304.2(PAH):c.-95-669G>C rs34674687 0.10808
NM_000277.3(PAH):c.1315+163del rs142522265 0.04817
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000277.3(PAH):c.706+56G>A rs76887545 0.02871
NM_000277.3(PAH):c.842+201G>T rs78795840 0.02871
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
NM_000277.2(PAH):c.-223G>A rs74820934 0.02848
NM_000277.2(PAH):c.-316T>C rs35465699 0.02810
NM_000277.3(PAH):c.1315+69G>A rs77181841 0.02382
NM_000277.3(PAH):c.353-138G>A rs7964033 0.01923
NM_000277.3(PAH):c.510-254C>T rs115410641 0.01766
NM_000277.3(PAH):c.1316-35C>T rs62509021 0.01677
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.706+17G>T rs62508592 0.00087
NM_000277.3(PAH):c.969+20G>A rs201083544 0.00035
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741 0.00008
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.3(PAH):c.330A>G (p.Ser110=)
NM_000277.3(PAH):c.352+164T>A rs78243047
NM_000277.3(PAH):c.352+294dup rs3062651
NM_000277.3(PAH):c.353-172G>A rs74392296
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.60+62C>G rs1522296
NM_000277.3(PAH):c.707-59C>G
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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