ClinVar Miner

List of variants reported as likely benign for albinism by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.3507C>T (p.Leu1169=)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718

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