ClinVar Miner

List of variants in gene combination GOSR2, LRRC37A2 reported by GeneDx

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.337-147T>G rs169126 0.99997
NM_004287.5(GOSR2):c.*301T>C rs8078556 0.93627
NM_004287.5(GOSR2):c.94+263A>G rs2072317 0.62802
NM_004287.5(GOSR2):c.*1519T>C rs4968286 0.44908
NM_004287.5(GOSR2):c.337-308A>G rs197926 0.42864
NM_004287.5(GOSR2):c.*1733A>G rs758392 0.41414
NM_004287.5(GOSR2):c.478-130T>C rs7221042 0.10690
NM_004287.5(GOSR2):c.94+257C>G rs75921757 0.07941
NM_004287.5(GOSR2):c.29+149C>T rs12150668 0.04113
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_004287.5(GOSR2):c.29+114A>G rs111850322 0.01872
NC_000017.11:g.46922988C>T rs76374478 0.01722
NM_004287.5(GOSR2):c.94+153T>G rs16941285 0.01546
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_004287.5(GOSR2):c.-16C>G rs373192791 0.00227
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 0.00108
NM_004287.5(GOSR2):c.*1823C>T rs142261376 0.00093
NM_004287.5(GOSR2):c.-29C>T rs769918763 0.00064
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) rs150381512 0.00064
NM_004287.5(GOSR2):c.-23C>A rs562237021 0.00041
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) rs145772886 0.00036
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_004287.5(GOSR2):c.-26G>C rs369892885 0.00021
NM_004287.5(GOSR2):c.94+7A>C rs376231923 0.00016
NM_004287.5(GOSR2):c.-1C>T rs574045746 0.00013
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) rs182039780 0.00006
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) rs144472114 0.00005
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) rs753166413 0.00004
NM_004287.5(GOSR2):c.*18G>T rs778066395 0.00003
NM_004287.5(GOSR2):c.29+13C>T rs747791818 0.00003
NM_004287.5(GOSR2):c.29+1G>A rs886039603 0.00003
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) rs1305687118 0.00003
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) rs1131691533 0.00003
NM_004287.5(GOSR2):c.29+9C>T rs951923133 0.00002
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) rs1023140976 0.00002
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) rs374613085 0.00001
NM_004287.5(GOSR2):c.39C>T (p.His13=) rs747877774 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_004287.5(GOSR2):c.94+12A>G rs369271685 0.00001
NM_004287.5(GOSR2):c.94+4A>G rs796052540 0.00001
NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG rs779892743
NM_004287.4(GOSR2):c.-34C>T rs1057523403
NM_004287.5(GOSR2):c.*1711G>A rs11657819
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.-22C>G rs768526397
NM_004287.5(GOSR2):c.-30G>C rs189899
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.336+45G>A rs16941300
NM_004287.5(GOSR2):c.336+45G>T rs16941300
NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg) rs2146973883
NM_004287.5(GOSR2):c.463A>G (p.Arg155Gly) rs2088086993
NM_004287.5(GOSR2):c.478-20dup rs552913709
NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser) rs758268045
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.5(GOSR2):c.587G>C (p.Gly196Ala) rs2147051308
NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer)
NM_004287.5(GOSR2):c.627G>C (p.Gln209His)
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) rs12944167
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.94+16_94+17del rs780992578

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