ClinVar Miner

List of variants in gene PRICKLE1 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.31969
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.02879
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00758
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00337
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00292
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00194
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651 0.00003
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met) rs756916881 0.00001
NM_153026.3(PRICKLE1):c.588+10dup rs766626651

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