ClinVar Miner

List of variants studied for primary hyperoxaluria type 2 by Thalassemia Center, San Luigi University Hospital

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.494-2A>G
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)

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