ClinVar Miner

List of variants reported as uncertain significance by Weber Lab, Hannover Medical School

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn) rs573441014 0.00003
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_014845.6(FIG4):c.1619C>T (p.Thr540Ile) rs1057519386

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