List of variants reported as pathogenic for 3MC syndrome 2

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser)	rs387907076	0.00001
COLEC11, EX1-3DEL
NC_000002.11:g.(3660973_3685122)_(3692235_?)del
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

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