ClinVar Miner

List of variants in gene GJB6 reported as likely benign for Clouston syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.-295-210G>A rs61058739 0.00821
NM_001110219.3(GJB6):c.*714C>T rs76179836 0.00656
NM_001110219.3(GJB6):c.-296+269G>A rs142230271 0.00523
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001110219.3(GJB6):c.-295-100C>T rs55901410 0.00153
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001110219.3(GJB6):c.*613T>G rs41292217 0.00086
NM_001110219.3(GJB6):c.-295-227C>T rs138547643 0.00066
NM_001110219.3(GJB6):c.-295-129G>A rs539881427 0.00063
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001110219.3(GJB6):c.6T>C (p.Asp2=) rs200415730 0.00044
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_001110219.3(GJB6):c.226C>T (p.Leu76=) rs180764573 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110219.3(GJB6):c.594G>A (p.Ala198=) rs763870146 0.00004
NM_001110219.3(GJB6):c.-295-278G>A rs573703525 0.00001
NM_001110219.3(GJB6):c.300C>T (p.His100=) rs757592980 0.00001
NM_001110219.3(GJB6):c.-295-208G>A rs142299925
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
NM_001110219.3(GJB6):c.723G>A (p.Gln241=) rs556168075

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