List of variants in gene MID1 reported as likely pathogenic for Opitz G/BBB 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000381.4(MID1):c.1142-1G>T	rs1929600096
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter)	rs2147266860
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)	rs1556004400
NM_000381.4(MID1):c.1454del (p.Pro485fs)	rs1556003200
NM_000381.4(MID1):c.1655+1G>A	rs1928556991
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)	rs1934582371
NM_000381.4(MID1):c.757-1G>A	rs1555895725
NM_000381.4(MID1):c.889C>T (p.Gln297Ter)	rs2147299486
NM_000381.4(MID1):c.922del (p.Arg308fs)	rs1555894390

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