List of variants reported as likely pathogenic for Opitz G/BBB syndrome

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Total variants: 17

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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.1688dup (p.Lys564fs)
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter)	rs1556001968
NM_000381.4(MID1):c.1798del (p.His600fs)
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter)	rs2147252384
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)	rs1556001856
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro)	rs2147252300
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
NM_015330.6(SPECC1L):c.1292T>C (p.Leu431Pro)	rs1556226291
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val)	rs1601294872

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