ClinVar Miner

List of variants in gene PAH reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_000277.3(PAH):c.510-20_510-18dup rs398123293

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