ClinVar Miner

List of variants reported as not provided by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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Total variants: 9
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HGVS dbSNP
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_031433.4(MFRP):c.1124+11C>G rs199473709
NM_031433.4(MFRP):c.1255+33_1255+34del rs199473711
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) rs199473708
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376
NM_031433.4(MFRP):c.975+18T>C rs185451482
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) rs199473712

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