ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_001010848.3(NRG3):c.1951G>A (p.Glu651Lys)
NM_001113348.1(ECE1):c.1019T>G (p.Phe340Cys)
NM_001113348.1(ECE1):c.1831C>T (p.Arg611Trp)
NM_001271534.2(DSCAM):c.2363C>T (p.Ala788Val)
NM_003924.3(PHOX2B):c.445C>G (p.Arg149Gly)
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_006941.3(SOX10):c.832A>G (p.Ile278Val)
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020630.5(RET):c.440T>C (p.Phe147Ser)
NM_020630.5(RET):c.604G>C (p.Val202Leu) rs751572082
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_138964.3(PROKR1):c.1019T>A (p.Leu340Gln)
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344

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