ClinVar Miner

List of variants studied for 3M syndrome 2 by 3billion

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) rs560822587 0.00009
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) rs202040862 0.00006
NM_015311.3(OBSL1):c.1972G>A (p.Glu658Lys) rs112487236 0.00001
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs) rs2106102918
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.3883G>A (p.Gly1295Arg) rs530576939
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510

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