ClinVar Miner

List of variants in gene OBSL1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) rs376818200 0.00055
NM_015311.3(OBSL1):c.79G>A (p.Ala27Thr) rs373427330 0.00039
NM_015311.3(OBSL1):c.2710G>A (p.Gly904Ser) rs751351118 0.00013
NM_015311.3(OBSL1):c.2989G>A (p.Val997Met) rs370476721 0.00009
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) rs77287119 0.00009
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) rs766548555 0.00006
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_015311.3(OBSL1):c.1900G>A (p.Val634Ile) rs562383235 0.00005
NM_015311.3(OBSL1):c.2516G>A (p.Arg839His) rs371714401 0.00005
NM_015311.3(OBSL1):c.5086G>A (p.Gly1696Arg) rs1044064113 0.00004
NM_015311.3(OBSL1):c.3171C>T (p.Gly1057=) rs765709164 0.00003
NM_015311.3(OBSL1):c.1775T>A (p.Ile592Asn) rs757609176 0.00001
NM_015311.3(OBSL1):c.1882T>C (p.Tyr628His)
NM_015311.3(OBSL1):c.2311C>G (p.His771Asp) rs768945071
NM_015311.3(OBSL1):c.4567G>A (p.Glu1523Lys) rs368547852
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
NM_015311.3(OBSL1):c.4847T>G (p.Leu1616Arg)
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) rs375418681
NM_015311.3(OBSL1):c.4876+5G>A
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693

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