List of variants in gene combination LOC108281160, MASP1 reported as uncertain significance for 3MC syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_139125.4(MASP1):c.49G>T (p.Ala17Ser)	rs746649361	0.00001
NM_139125.4(MASP1):c.125G>A (p.Ser42Asn)	rs1717812573
NM_139125.4(MASP1):c.35T>C (p.Phe12Ser)
NM_139125.4(MASP1):c.73A>T (p.Asn25Tyr)

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