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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)	rs141893504	0.00428
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)	rs138878772	0.00261
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)	rs138287857	0.00112
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)	rs144018404	0.00063
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)	rs200894751	0.00022
NM_006941.4(SOX10):c.832A>G (p.Ile278Val)	rs760539449	0.00006
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val)	rs1419539530	0.00003
NM_020975.6(RET):c.2437C>T (p.Arg813Trp)	rs779996040	0.00001
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys)	rs765763704
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)	rs1560465785
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.440T>C (p.Phe147Ser)	rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu)	rs751572082
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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