ClinVar Miner

List of variants in gene UNC80 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.840C>G (p.Ile280Met) rs142126808 0.00043
NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro) rs200743585 0.00023
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln) rs182597438 0.00006
NM_001371986.1(UNC80):c.1112C>T (p.Pro371Leu) rs554862246 0.00004
NM_001371986.1(UNC80):c.3206G>A (p.Arg1069Gln) rs1253303904 0.00001
NM_001371986.1(UNC80):c.4012G>T (p.Ala1338Ser) rs779770255 0.00001
NM_001371986.1(UNC80):c.2273G>C (p.Gly758Ala) rs573522549
NM_001371986.1(UNC80):c.4581+5G>T rs2086801801
NM_001371986.1(UNC80):c.4923G>T (p.Leu1641=) rs1559319182
NM_001371986.1(UNC80):c.5660A>G (p.Glu1887Gly)
NM_001371986.1(UNC80):c.8009G>A (p.Arg2670Gln) rs1316184195
NM_001371986.1(UNC80):c.8321A>T (p.Glu2774Val) rs2125013184
NM_001371986.1(UNC80):c.9958G>A (p.Asp3320Asn) rs2093472113

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