ClinVar Miner

List of variants reported as likely benign for Meckel syndrome, type 5

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004

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