ClinVar Miner

List of variants reported as pathogenic for albinism by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673

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