List of variants in gene OBSL1 reported as pathogenic for 3M syndrome 2

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)	rs762334954	0.00009
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)	rs1057518717	0.00002
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter)	rs775865076	0.00001
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs)	rs2106102918
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)	rs1559155954
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter)	rs121918215
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs)	rs1335171880
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter)	rs121918216
NM_015311.3(OBSL1):c.2164del (p.Asp722fs)	rs1696816233
NM_015311.3(OBSL1):c.2249dup (p.Tyr750Ter)
NM_015311.3(OBSL1):c.2474del (p.Val825fs)	rs1057518716
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs)	rs1559160379
NM_015311.3(OBSL1):c.458dup (p.Leu154fs)	rs767237510
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)	rs1553538488
NM_015311.3(OBSL1):c.848del (p.Gly283fs)	rs773698181
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_015311.3(OBSL1):c.[1273dup];[35dup]

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