ClinVar Miner

List of variants studied for albinism by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001301365.1(LYST):c.11167G>T (p.Ala3723Ser)
NM_001301365.1(LYST):c.3203A>G (p.Gln1068Arg)
NM_001301365.1(LYST):c.6185G>A (p.Gly2062Glu)
NM_001301365.1(LYST):c.7647G>A (p.Gln2549=)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_003664.4(AP3B1):c.1412T>A (p.Met471Lys) rs771964089
NM_003664.4(AP3B1):c.2890T>C (p.Leu964=) rs750377910
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552

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