ClinVar Miner

List of variants in gene PRICKLE1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 24
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HGVS dbSNP
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=) rs142502371
NM_153026.3(PRICKLE1):c.1318A>G (p.Ser440Gly) rs1566080286
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425
NM_153026.3(PRICKLE1):c.1699_1701GAG[1] (p.Glu568del) rs1413929405
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) rs370129051
NM_153026.3(PRICKLE1):c.2002T>A (p.Ser668Thr) rs794727934
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908
NM_153026.3(PRICKLE1):c.2043C>T (p.Ser681=) rs1555229314
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104
NM_153026.3(PRICKLE1):c.2275G>A (p.Asp759Asn) rs886042287
NM_153026.3(PRICKLE1):c.2288G>A (p.Cys763Tyr) rs886044288
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys) rs752070986
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.3(PRICKLE1):c.920G>A (p.Ser307Asn) rs886043436

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