ClinVar Miner

List of variants reported as pathogenic for albinism by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000081.3(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.3(LYST):c.2413del (p.Glu805fs)
NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_000081.3(LYST):c.3601del (p.Ser1201fs)
NM_000081.3(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.3(LYST):c.925C>T (p.Arg309Ter)
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
Single allele

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