ClinVar Miner

List of variants reported as pathogenic for disorder of melanin metabolism by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597

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