ClinVar Miner

List of variants in gene HPS1 reported as likely benign for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000195.5(HPS1):c.*1326C>A rs146022441
NM_000195.5(HPS1):c.*460C>T rs114794063
NM_000195.5(HPS1):c.*473G>A rs3830019
NM_000195.5(HPS1):c.*694C>T rs7075480
NM_000195.5(HPS1):c.-105-9C>T rs2296429
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.987+13T>C rs12571249

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