ClinVar Miner

List of variants in gene PRPF31 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08499
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08164
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) rs144322132 0.00008
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_015629.4(PRPF31):c.1147-9= rs655240

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