ClinVar Miner

List of variants in gene HPRT1 reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000194.3(HPRT1):c.134+1G>C rs2124290378
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) rs1602741150
NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro) rs2124291470
NM_000194.3(HPRT1):c.384+1G>T rs398123240
NM_000194.3(HPRT1):c.486-7T>G rs763693519

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