ClinVar Miner

List of variants in gene RPGRIP1L reported as likely pathogenic for Meckel syndrome, type 5

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.2684-9A>G rs1211499888
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998

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