ClinVar Miner

List of variants in gene SEC63 reported as uncertain significance for Polycystic liver disease 1

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Gene type:
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Total variants: 25
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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_007214.4(SEC63):c.-237C>T rs563388363 0.00030
NM_007214.5(SEC63):c.*1920_*1921insC rs886060948 0.00013
NM_007214.4(SEC63):c.-215G>A rs532894703 0.00001
NM_007214.5(SEC63):c.*3432dup rs886060939 0.00001
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.1697AAG[2] (p.Glu568del) rs752018806
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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