List of variants reported as uncertain significance for Opitz G/BBB syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)	rs147106995	0.00240
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu)	rs780880323	0.00002
NM_000381.4(MID1):c.107G>A (p.Arg36His)	rs1270080835	0.00001
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys)	rs2041009697	0.00001
NM_000381.4(MID1):c.1415G>A (p.Arg472His)
NM_000381.4(MID1):c.1495G>A (p.Val499Met)	rs868016081
NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp)
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)	rs1057520313
NM_000381.4(MID1):c.476A>G (p.His159Arg)	rs1934579726
NM_000381.4(MID1):c.535G>A (p.Glu179Lys)	rs2147468779
NM_000381.4(MID1):c.693T>G (p.Ile231Met)
NM_000381.4(MID1):c.757-5831A>G	rs1555896387
NM_000381.4(MID1):c.849G>C (p.Lys283Asn)
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala)	rs139099983
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer)	rs2040777042
NM_015330.6(SPECC1L):c.2473del (p.Met825fs)	rs2146521275

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