List of variants studied for 3MC syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp)	rs773764995	0.00002
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	rs149010496	0.00001
NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser)	rs387907076	0.00001
NM_139125.4(MASP1):c.870G>A (p.Trp290Ter)	rs763360042	0.00001
COLEC11, EX1-3DEL
NM_006438.5(COLEC10):c.228del (p.Gly77fs)	rs1060505022
NM_024027.5(COLEC11):c.309del (p.Gly104fs)	rs2147963510
NM_024027.5(COLEC11):c.45del (p.Phe16fs)	rs1572389284
NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro)	rs387907075
NM_024027.5(COLEC11):c.648_650del (p.Ser217del)	rs2147975970
NM_139125.4(MASP1):c.1489C>T (p.His497Tyr)	rs387906752
NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg)	rs387906753
NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu)	rs387906754
NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg)	rs533236263

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