List of variants reported as pathogenic by Physiology, Radboud University Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017649.5(CNNM2):c.2384C>T (p.Ser795Leu)	rs1564873187	0.00001
NC_000010.10:g.(?_104678237)_(104816721_?)del
NM_017649.5(CNNM2):c.1253T>C (p.Leu418Pro)	rs1845553116
NM_017649.5(CNNM2):c.143T>C (p.Leu48Pro)	rs1845510486
NM_017649.5(CNNM2):c.1842_1844del (p.Ser614_Glu615delinsArg)	rs2065263811
NM_017649.5(CNNM2):c.2389C>T (p.Arg797Ter)	rs2065688398
NM_017649.5(CNNM2):c.942C>G (p.Tyr314Ter)	rs1845544924
NM_017649.5(CNNM2):c.955CTG[2] (p.Leu321del)	rs1845545201
NM_017649.5(CNNM2):c.970G>A (p.Val324Met)	rs1845545378

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