List of variants in gene COLEC11 reported as pathogenic for 3MC syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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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