ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) rs759396333 0.00001
NM_001352514.2(HLCS):c.926C>T (p.Pro309Leu) rs771688112 0.00001
NM_001352514.2(HLCS):c.1233C>G (p.His411Gln) rs1601802008
NM_001352514.2(HLCS):c.1970G>A (p.Gly657Glu) rs139216349
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) rs773627772

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