ClinVar Miner

List of variants reported as likely pathogenic by Kasturba Medical College,Manipal University

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Total variants: 4
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HGVS dbSNP
NM_000248.3(MITF):c.718C>G (p.Arg240Gly) rs1559751245
NM_001309516.2(PTH2R):c.140C>T (p.Ser47Phe) rs1553546045
NM_181457.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)

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