ClinVar Miner

List of variants in gene PAH reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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GRCh37/hg19 12q23.2(chr12:102929882-103248872)x3
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1316-2A>G rs760830761
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.60+28del rs770397705
NM_000277.3(PAH):c.842+4A>G rs1555204434

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