ClinVar Miner

List of variants in gene PRICKLE1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320 0.00015
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494 0.00013
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) rs777597253 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619 0.00010
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00007
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504 0.00004
NM_153026.3(PRICKLE1):c.1639+4C>T rs746747159 0.00003
NM_153026.3(PRICKLE1):c.1762C>G (p.Leu588Val) rs1345086413 0.00003
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val) rs552840971 0.00002
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) rs751021008 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys) rs762525821 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg) rs768870075 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_153026.3(PRICKLE1):c.1619T>C (p.Leu540Ser) rs1290563630 0.00001
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His) rs1251183992 0.00001
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr) rs778075325 0.00001
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile) rs143947284 0.00001
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys) rs749541698 0.00001
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys) rs567656128 0.00001
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp) rs765199745 0.00001
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984 0.00001
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) rs751791144 0.00001
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro) rs771838146 0.00001
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) rs1300341380 0.00001
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017 0.00001
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu) rs1051639607 0.00001
NM_153026.3(PRICKLE1):c.136C>A (p.Gln46Lys) rs2503469115
NM_153026.3(PRICKLE1):c.1372A>C (p.Asn458His) rs769168031
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr) rs2140100316
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) rs778765052
NM_153026.3(PRICKLE1):c.1752C>A (p.Asn584Lys) rs2503379347
NM_153026.3(PRICKLE1):c.1766A>T (p.His589Leu)
NM_153026.3(PRICKLE1):c.1864T>C (p.Ser622Pro) rs773978081
NM_153026.3(PRICKLE1):c.1888C>A (p.Gln630Lys) rs200171609
NM_153026.3(PRICKLE1):c.2056G>A (p.Ala686Thr) rs1312641761
NM_153026.3(PRICKLE1):c.2072C>G (p.Thr691Arg)
NM_153026.3(PRICKLE1):c.2183C>T (p.Ala728Val) rs1295243932
NM_153026.3(PRICKLE1):c.2189T>A (p.Leu730His)
NM_153026.3(PRICKLE1):c.2263T>C (p.Tyr755His) rs1458654868
NM_153026.3(PRICKLE1):c.2303C>T (p.Ser768Phe) rs914541520
NM_153026.3(PRICKLE1):c.2344C>T (p.Pro782Ser)
NM_153026.3(PRICKLE1):c.2363C>T (p.Pro788Leu)
NM_153026.3(PRICKLE1):c.337A>G (p.Thr113Ala) rs2503459186
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val) rs1343849513
NM_153026.3(PRICKLE1):c.469G>T (p.Val157Phe) rs770028506
NM_153026.3(PRICKLE1):c.539G>T (p.Gly180Val) rs754699794
NM_153026.3(PRICKLE1):c.670G>A (p.Val224Ile)

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