ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as benign by GeneDx

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_001199973.2(RPL36A-HNRNPH2):c.300+2198C>T rs35019768 0.12324
NM_000169.3(GLA):c.639+771C>T rs5991933 0.07381
NM_001199973.2(RPL36A-HNRNPH2):c.300+2077C>T rs146101947 0.06647
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.640-136T>C rs3027592 0.06552
NM_000169.3(GLA):c.639+68A>G rs3027589 0.06497
NM_000169.3(GLA):c.547+102A>G rs3027588 0.04292
NM_000169.3(GLA):c.640-319A>G rs3027590 0.04056
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_000169.3(GLA):c.547+190C>T rs41311559 0.03222
NM_000169.3(GLA):c.639+739C>T rs146083243 0.01996
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C rs185255090 0.00585
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_001199973.2(RPL36A-HNRNPH2):c.300+2319C>T rs782094147 0.00003
NM_000169.3(GLA):c.1000-67del rs2147471526
NM_000169.3(GLA):c.231C>T (p.Val77=) rs2147480878
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.640-133G>A rs2147473679
NM_000169.3(GLA):c.640-201_640-196del rs199939678
NM_000169.3(GLA):c.640-611_640-610del rs201073095
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.802-18T>A rs2147472564
NM_000169.3(GLA):c.999+67del rs2147471663
NM_001199973.2(RPL36A-HNRNPH2):c.300+2113dup rs200620191
NM_001199973.2(RPL36A-HNRNPH2):c.301-3904T>C rs2147488325
NM_001199973.2(RPL36A-HNRNPH2):c.301-3906G>A rs2147488314

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