ClinVar Miner

List of variants in gene SMO reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005631.5(SMO):c.538-91C>A rs13223446 0.03996
NM_005631.5(SMO):c.1801+201del rs35526047 0.02753
NM_005631.5(SMO):c.1264+243C>T rs540755083 0.01656
NM_005631.5(SMO):c.2052G>A (p.Pro684=) rs77320475 0.01395
NM_005631.5(SMO):c.1801+100C>T rs112692204 0.01262
NM_005631.5(SMO):c.1265-209C>T rs75661386 0.01255
NM_005631.5(SMO):c.1801+23C>T rs56144682 0.01176
NM_005631.5(SMO):c.*219G>A rs41274236 0.01039
NM_005631.5(SMO):c.1140+13G>A rs56358283 0.01004
NM_005631.5(SMO):c.852G>A (p.Gln284=) rs45445295 0.00976
NM_005631.5(SMO):c.384C>T (p.Ala128=) rs45571737 0.00916
NM_005631.5(SMO):c.920+68G>A rs116744883 0.00898
NM_005631.5(SMO):c.331+137G>A rs116115552 0.00783
NM_005631.5(SMO):c.1937-59G>C rs148130645 0.00773
NM_005631.5(SMO):c.1264+168G>A rs116059805 0.00771
NM_005631.5(SMO):c.1357+12C>T rs55987303 0.00752
NM_005631.5(SMO):c.1467-44G>A rs193242977 0.00552
NM_005631.5(SMO):c.1203G>C (p.Ala401=) rs117663825 0.00548
NM_005631.5(SMO):c.717C>T (p.Ala239=) rs111482521 0.00510
NM_005631.5(SMO):c.747+44C>T rs201383344 0.00459
NM_005631.5(SMO):c.332-243G>T rs55674128 0.00404
NM_005631.5(SMO):c.735G>A (p.Thr245=) rs45541540 0.00383
NM_005631.5(SMO):c.2259G>A (p.Pro753=) rs45516102 0.00318
NM_005631.5(SMO):c.2093C>G (p.Pro698Arg) rs116640950 0.00168
NM_005631.5(SMO):c.1248C>G (p.Gly416=) rs199960351 0.00011
NM_005631.5(SMO):c.1801+118C>A rs41274167
NM_005631.5(SMO):c.1801+52T>A

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