ClinVar Miner

List of variants in gene SLC45A2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His) rs142680641 0.00053
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_016180.5(SLC45A2):c.1244T>C (p.Ile415Thr) rs112249076 0.00007
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970 0.00001
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1109G>A (p.Gly370Glu) rs143764115
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs) rs896495198
NM_016180.5(SLC45A2):c.1225G>A (p.Gly409Ser) rs1554054057
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del) rs779024478
NM_016180.5(SLC45A2):c.86A>G (p.Lys29Arg) rs199882086
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317

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