List of variants in gene SLC45A2 reported as pathogenic for disorder of melanin metabolism

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)	rs146802593	0.00019
NM_016180.5(SLC45A2):c.264del (p.Gly89fs)	rs775387808	0.00011
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	rs121912619	0.00006
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)	rs530738094	0.00004
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)	rs200122644	0.00003
NM_016180.5(SLC45A2):c.304C>T (p.Arg102Trp)	rs760331451	0.00002
NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro)	rs759043037	0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)	rs121912620	0.00001
NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn)	rs751978811	0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs)	rs757344228	0.00001
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	rs753485165
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs)	rs730880271
NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)
NM_016180.5(SLC45A2):c.1157-765C>G
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)	rs896495198
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)	rs759411189
NM_016180.5(SLC45A2):c.1368+1G>T	rs1294369944
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs)	rs1057518722
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)	rs562624441
NM_016180.5(SLC45A2):c.386-1G>A	rs1753106609
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)	rs121912621
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)	rs760780597
NM_016180.5(SLC45A2):c.563-1G>A	rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)	rs387906318
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)	rs116887602
NM_016180.5(SLC45A2):c.986del (p.Thr329fs)	rs387906317

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