ClinVar Miner

List of variants in gene SMO reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_005631.5(SMO):c.1264+288A>G rs2735843 0.83855
NM_005631.5(SMO):c.1164G>C (p.Gly388=) rs2228617 0.78614
NM_005631.5(SMO):c.920+79C>T rs2075778 0.78555
NM_005631.5(SMO):c.1264+130_1264+131dup rs10622446 0.78503
NM_005631.5(SMO):c.1264+41A>G rs2735842 0.78439
NM_005631.5(SMO):c.921-84T>C rs2075779 0.78432
NM_005631.5(SMO):c.538-26C>T rs2703091 0.78431
NM_005631.5(SMO):c.747+72G>A rs2566872 0.78312
NM_005631.5(SMO):c.332-56C>T rs2566871 0.49477
NM_005631.5(SMO):c.*89C>T rs2075780 0.14945
NM_005631.5(SMO):c.538-91C>A rs13223446 0.03996
NM_005631.5(SMO):c.747+46T>C rs34894139 0.03925
NM_005631.5(SMO):c.1137G>A (p.Ala379=) rs35678076 0.02843
NM_005631.5(SMO):c.1722T>C (p.Ser574=) rs2016607 0.02785
NM_005631.5(SMO):c.1265-208C>T rs34989446 0.02772
NM_005631.5(SMO):c.1467-270G>C rs13242728 0.02771
NM_005631.5(SMO):c.1801+201del rs35526047 0.02753
NM_005631.5(SMO):c.1467-37A>G rs13242765 0.02723
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.582A>G (p.Glu194=) rs56334250 0.00368
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.591G>A (p.Leu197=) rs148583945 0.00046
NM_005631.5(SMO):c.1921C>G (p.Pro641Ala) rs146200641 0.00038
NM_005631.5(SMO):c.2126G>A (p.Arg709Gln) rs369342481 0.00027
NM_005631.5(SMO):c.583G>A (p.Val195Met) rs138284001 0.00026
NM_005631.5(SMO):c.385G>A (p.Val129Ile) rs41303402 0.00015
NM_005631.5(SMO):c.1248C>G (p.Gly416=) rs199960351 0.00011
NM_005631.5(SMO):c.704C>T (p.Ala235Val) rs142599757 0.00010
NM_005631.5(SMO):c.1255C>T (p.Leu419Phe) rs1382535412 0.00001
NM_005631.5(SMO):c.1900C>T (p.Pro634Ser) rs765350977 0.00001
NM_005631.5(SMO):c.392T>C (p.Met131Thr) rs1793703823 0.00001
NM_005631.5(SMO):c.1210G>C (p.Val404Leu)
NM_005631.5(SMO):c.1264+259del rs35143663
NM_005631.5(SMO):c.1467-120T>G rs4728158
NM_005631.5(SMO):c.1793G>T (p.Gly598Val)
NM_005631.5(SMO):c.1801+118C>A rs41274167
NM_005631.5(SMO):c.1801+52T>A
NM_005631.5(SMO):c.192C>A (p.Cys64Ter) rs2150638188
NM_005631.5(SMO):c.2258C>T (p.Pro753Leu)
NM_005631.5(SMO):c.242C>G (p.Ser81Trp)
NM_005631.5(SMO):c.531del (p.Cys178fs) rs2150646953
NM_005631.5(SMO):c.538-10dup rs764173699
NM_005631.5(SMO):c.538-186AAAG[4] rs10668861
NM_005631.5(SMO):c.602A>T (p.Asp201Val) rs1793744398
NM_005631.5(SMO):c.747+24G>C rs2075777
NM_005631.5(SMO):c.833G>A (p.Ser278Asn)
NM_005631.5(SMO):c.845_848del (p.Leu282fs)

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