List of variants in gene OBSL1 reported as likely pathogenic

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter)	rs561778744	0.00018
NM_015311.3(OBSL1):c.1535-3_1535-2del	rs1396471922	0.00001
NM_015311.3(OBSL1):c.1007_1012+29del	rs1025372068
NM_015311.3(OBSL1):c.1012+1G>T
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)	rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)	rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del	rs760929207
NM_015311.3(OBSL1):c.149_162dup (p.Glu56fs)
NM_015311.3(OBSL1):c.1534+5G>C	rs775172922
NM_015311.3(OBSL1):c.2134+1G>A	rs1696928123
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.241del (p.Val81fs)	rs1697309952
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)	rs1696644780
NM_015311.3(OBSL1):c.3106del (p.Val1036fs)
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs)	rs1449351602
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.399del (p.Pro134fs)
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs)	rs2106028466
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs)	rs1434485676
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)	rs1553538488
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter)	rs780389591

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