List of variants in gene MASP1 reported as pathogenic for 3MC syndrome 1

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_139125.4(MASP1):c.870G>A (p.Trp290Ter)	rs763360042	0.00001
NC_000003.12:g.(?_187235664)_(187256880_?)del
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
NM_139125.4(MASP1):c.518del (p.Ile173fs)	rs1579537069
NM_139125.4(MASP1):c.812dup (p.Ser272fs)	rs1560255926
NM_139125.4(MASP1):c.913C>T (p.Gln305Ter)	rs1714622835

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