ClinVar Miner

List of variants reported as likely pathogenic by Human Genomics Unit,Institute for molecular medicine Finland (FIMM)

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Total variants: 17
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NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_006941.4(SOX10):c.832A>G (p.Ile278Val) rs760539449
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_138964.3(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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