ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs) rs2106028466
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)

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