ClinVar Miner

List of variants in gene PRICKLE1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) rs370129051 0.00004
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00003
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.1318A>G (p.Ser440Gly) rs1566080286 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616 0.00001
NM_153026.3(PRICKLE1):c.2002T>A (p.Ser668Thr) rs794727934 0.00001
NM_153026.3(PRICKLE1):c.1699GAG[1] (p.Glu568del) rs1413929405
NM_153026.3(PRICKLE1):c.2043C>T (p.Ser681=) rs1555229314
NM_153026.3(PRICKLE1):c.2275G>A (p.Asp759Asn) rs886042287
NM_153026.3(PRICKLE1):c.2288G>A (p.Cys763Tyr) rs886044288

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