ClinVar Miner

List of variants in gene STRC reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_153700.2(STRC):c.4842C>T (p.Phe1614=) rs3097773 0.28968
NM_153700.2(STRC):c.4376-34G>A rs2260160 0.25438
NM_153700.2(STRC):c.4878C>G (p.Leu1626=) rs12438025 0.22424
NM_153700.2(STRC):c.4845-13T>C rs12437957 0.22156
NM_153700.2(STRC):c.4219-96G>T rs2614819 0.22120
NM_153700.2(STRC):c.3893A>G (p.His1298Arg) rs2920780 0.22075
NM_153700.2(STRC):c.4546-69C>T rs2447196 0.22035
NM_153700.2(STRC):c.4376-33C>T rs28495368 0.21497
NM_153700.2(STRC):c.876-140C>T rs141202682 0.19842
NM_153700.2(STRC):c.3702G>A (p.Glu1234=) rs62018890 0.15544
NM_153700.2(STRC):c.3794+193A>G rs201046316 0.13221
NM_153700.2(STRC):c.2480+50G>C rs142869031 0.12584
NM_153700.2(STRC):c.875+264G>A rs879525897 0.05488
NM_153700.2(STRC):c.3498+255C>T rs140608596 0.03729
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_153700.2(STRC):c.3372+77C>T rs576175353 0.01786
NM_153700.2(STRC):c.4035G>C (p.Leu1345=) rs143345370 0.01748
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01055
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00472
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) rs377674360 0.00085
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00013
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00011
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.2494C>T (p.Arg832Trp) rs876658007 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) rs2915791 0.00005
NM_153700.2(STRC):c.3307G>A (p.Val1103Ile) rs1057518394 0.00004
NM_153700.2(STRC):c.4980T>G (p.Ile1660Met) rs762892344 0.00003
NM_153700.2(STRC):c.3794+1G>A rs777192662 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del) rs1567120678
NM_153700.2(STRC):c.3307-43_3307-42insACACACACAG rs1555447501
NM_153700.2(STRC):c.3502_3503del (p.Gln1168fs) rs764864372
NM_153700.2(STRC):c.3795-213del rs59946403
NM_153700.2(STRC):c.3922C>T (p.Gln1308Ter)
NM_153700.2(STRC):c.4127+50C>G rs2614822
NM_153700.2(STRC):c.4159G>C (p.Glu1387Gln)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_153700.2(STRC):c.4253T>C (p.Leu1418Pro)
NM_153700.2(STRC):c.4681G>C (p.Asp1561His) rs762262248
NM_153700.2(STRC):c.4702-59del rs57893955
NM_153700.2(STRC):c.4956G>C (p.Trp1652Cys) rs767260013
NM_153700.2(STRC):c.4989_4990del (p.Ala1664fs)
NM_153700.2(STRC):c.734C>T (p.Ala245Val)

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