ClinVar Miner

List of variants in gene UNC80 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) rs78846221 0.00633
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) rs182186415 0.00381
NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=) rs77708914 0.00238
NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile) rs146163378 0.00230
NM_001371986.1(UNC80):c.9141C>T (p.Ser3047=) rs73003402 0.00200
NM_001371986.1(UNC80):c.9933G>A (p.Glu3311=) rs138970658 0.00150
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_001371986.1(UNC80):c.4572G>A (p.Ser1524=) rs200541732 0.00098
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001371986.1(UNC80):c.3372T>G (p.Ser1124Arg) rs199664663 0.00090
NM_001371986.1(UNC80):c.2616G>A (p.Pro872=) rs200238702 0.00086
NM_001371986.1(UNC80):c.765T>C (p.Cys255=) rs145935313 0.00062
NM_001371986.1(UNC80):c.6555C>T (p.His2185=) rs78714720 0.00051
NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val) rs199561408 0.00049
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031
NM_001371986.1(UNC80):c.6702G>A (p.Leu2234=) rs139008923 0.00022
NM_001371986.1(UNC80):c.5499A>G (p.Thr1833=) rs77584629 0.00008
NM_001371986.1(UNC80):c.6783G>A (p.Gly2261=) rs746042765 0.00006
NM_001371986.1(UNC80):c.2685T>C (p.Asn895=) rs774153512 0.00004
NM_001371986.1(UNC80):c.9597A>G (p.Leu3199=) rs370386829 0.00004
NM_001371986.1(UNC80):c.894T>C (p.Ser298=) rs762916531 0.00002
NM_001371986.1(UNC80):c.831T>C (p.Ser277=) rs1198134364 0.00001
NM_001371986.1(UNC80):c.7395G>A (p.Ala2465=)

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