ClinVar Miner

List of variants reported as uncertain significance for Polycystic liver disease 1 by Illumina Laboratory Services, Illumina

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.1936-7_1936-5dup rs766716921 0.15112
NM_007214.5(SEC63):c.*3948A>T rs374547546 0.00283
NM_007214.5(SEC63):c.*1113_*1115del rs541858963 0.00198
NM_001289104.2(PRKCSH):c.*279G>T rs531001195 0.00072
NM_007214.4(SEC63):c.-237C>T rs563388363 0.00030
NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=) rs745841943 0.00017
NM_002743.2(PRKCSH):c.-168G>A rs369133175 0.00013
NM_007214.5(SEC63):c.*1920_*1921insC rs886060948 0.00013
NM_001289104.2(PRKCSH):c.*329C>A rs959110177 0.00011
NM_001289104.2(PRKCSH):c.-77-2A>C rs201157643 0.00010
NM_001289104.2(PRKCSH):c.*17-12C>G rs968650873 0.00006
NM_001289104.2(PRKCSH):c.*249C>T rs963870626 0.00004
NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser) rs866469235 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_001289104.2(PRKCSH):c.*106G>A rs551163875 0.00002
NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=) rs138505797 0.00002
NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met) rs747755213 0.00002
NM_001289104.2(PRKCSH):c.*321A>G rs1445983867 0.00001
NM_001289104.2(PRKCSH):c.-105T>C rs886054196 0.00001
NM_001289104.2(PRKCSH):c.1197-14G>A rs141301073 0.00001
NM_001289104.2(PRKCSH):c.702G>A (p.Leu234=) rs886054198 0.00001
NM_007214.4(SEC63):c.-215G>A rs532894703 0.00001
NM_007214.5(SEC63):c.*3432dup rs886060939 0.00001
NM_001289104.2(PRKCSH):c.*150C>T rs886054200
NM_001289104.2(PRKCSH):c.1196+6G>T rs958262771
NM_001289104.2(PRKCSH):c.1204G>A (p.Glu402Lys) rs886054199
NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=) rs1970436642
NM_001289104.2(PRKCSH):c.234C>T (p.Thr78=) rs766897286
NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=) rs780423740
NM_001289104.2(PRKCSH):c.404G>T (p.Arg135Leu) rs886054197
NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile) rs1423831684
NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr) rs149258999
NM_001289104.2(PRKCSH):c.888C>T (p.Asp296=) rs1970365646
NM_002743.2(PRKCSH):c.-193G>A rs886054195
NM_007214.5(SEC63):c.*1787GTT[1] rs886060949
NM_007214.5(SEC63):c.*1927_*1932del rs772400721
NM_007214.5(SEC63):c.*1931dup rs55885857
NM_007214.5(SEC63):c.*1932_*1933insA rs886060946
NM_007214.5(SEC63):c.*1932_*1937del rs886060945
NM_007214.5(SEC63):c.*3031del rs34250899
NM_007214.5(SEC63):c.*3031dup rs34250899
NM_007214.5(SEC63):c.*3480dup rs56104837
NM_007214.5(SEC63):c.*3705T>G rs886060936
NM_007214.5(SEC63):c.1210-7del rs370485907
NM_007214.5(SEC63):c.1936-27_1936-26dup rs749125299
NM_007214.5(SEC63):c.1936-4_1936-3insT rs773608064
NM_007214.5(SEC63):c.1936-4_1936-3insTTT rs773608064
NM_007214.5(SEC63):c.1936-7_1936-6dup rs766716921
NM_007214.5(SEC63):c.1936-7dup rs766716921
NM_007214.5(SEC63):c.340-12dup rs886060957
NM_007214.5(SEC63):c.340-8_340-7del rs66526324

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