ClinVar Miner

List of variants studied for oculocutaneous albinism by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.1066G>C (p.Ala356Pro)
NM_000275.3(OCA2):c.2244+1G>C
NM_016180.5(SLC45A2):c.816del (p.Val274fs)

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