ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely benign by Ambry Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.376A>G (p.Ser126Gly) rs149391489 0.00043
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.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000169.3(GLA):c.402T>C (p.Tyr134=) rs1183869568 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.426C>T (p.Cys142=) rs1421866281 0.00001
NM_000169.3(GLA):c.597G>A (p.Val199=) rs1555985551 0.00001
NM_000169.3(GLA):c.102T>C (p.Asn34=)
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
NM_000169.3(GLA):c.213G>A (p.Glu71=) rs886039140
NM_000169.3(GLA):c.249T>C (p.Asp83=) rs2147480812
NM_000169.3(GLA):c.327C>T (p.Asp109=)
NM_000169.3(GLA):c.45G>C (p.Ala15=) rs1928594327
NM_000169.3(GLA):c.57G>A (p.Leu19=)
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490

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