ClinVar Miner

List of variants in gene PAH reported as likely benign by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000277.2(PAH):c.1066-31G>A rs199475685
NM_000277.2(PAH):c.1199+70G>A rs281865457
NM_000277.2(PAH):c.169-42T>A rs281865459
NM_000277.2(PAH):c.352+11G>C rs371926082
NM_000277.2(PAH):c.442-18G>A rs149538764
NM_000277.2(PAH):c.969+7C>T rs80324017
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616

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