ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.975+18T>C rs185451482 0.00589
NM_031433.4(MFRP):c.1124+11C>G rs199473709 0.00002
NM_031433.4(MFRP):c.1255+33_1255+34del rs199473711 0.00001
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) rs199473708 0.00001
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376

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