List of variants reported as uncertain significance for Hirschsprung Disease, Dominant

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_207034.2(EDN3):c.-359T>A	rs886056871	0.00046
NM_207034.2(EDN3):c.-268G>C	rs868738564	0.00006
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)	rs775842917	0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=)	rs576806329	0.00004
NM_207034.3(EDN3):c.*831G>A	rs886056886	0.00004
NM_020975.6(RET):c.1760-12G>A	rs377767392	0.00003
NM_000514.4(GDNF):c.128_133del	rs886060603
NM_000514.4(GDNF):c.*2067del	rs886060589
NM_000514.4(GDNF):c.2829_2830del	rs141939066
NM_020975.6(RET):c.*1020G>T	rs886047004
NM_020975.6(RET):c.*1103C>T	rs886047005
NM_020975.6(RET):c.*1233T>C	rs886047007
NM_020975.6(RET):c.*1278del	rs886047008
NM_020975.6(RET):c.*1337A>T	rs886047009
NM_020975.6(RET):c.*1345G>T	rs886047010
NM_020975.6(RET):c.*358G>T	rs886046991
NM_020975.6(RET):c.*368G>T	rs756051983
NM_020975.6(RET):c.*446A>G	rs886046992
NM_020975.6(RET):c.*453G>T	rs886046993
NM_020975.6(RET):c.*509A>G	rs886046996
NM_020975.6(RET):c.*553G>T	rs886046998
NM_020975.6(RET):c.*600delinsTT	rs1588882236
NM_020975.6(RET):c.*749dup	rs886047000
NM_020975.6(RET):c.*763C>T	rs886047001
NM_020975.6(RET):c.*935C>A	rs886047003
NM_020975.6(RET):c.-187C>A	rs886046983
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)	rs138847998
NM_020975.6(RET):c.2580G>A (p.Gln860=)	rs886046988
NM_020975.6(RET):c.2847A>G (p.Gly949=)	rs886046989
NM_207034.3(EDN3):c.138_139insCC	rs886056876
NM_207034.3(EDN3):c.139_140del	rs1555850390
NM_207034.3(EDN3):c.*139del	rs886056877
NM_207034.3(EDN3):c.148_149del	rs11475273

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