ClinVar Miner

List of variants studied for albinism by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.11268-5del rs36014994
NM_000081.3(LYST):c.2363+10dupT
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.8487C>T (p.Ile2829=)
NM_000081.3(LYST):c.8607A>G (p.Gln2869=)
NM_000081.3(LYST):c.8980G>A (p.Glu2994Lys)
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875

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