ClinVar Miner

List of variants reported as pathogenic by Center for Genomic Medicine, Kyoto University Graduate School of Medicine

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NM_001204.7(BMPR2):c.1277-10_1277-9insGGG rs886039220
NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) rs886039221
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.174_175dup (p.Leu59fs) rs886039223
NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) rs398123039

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