ClinVar Miner

List of variants in gene PRICKLE1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001

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