ClinVar Miner

List of variants studied for albinism by Mendelics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073

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