List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as uncertain significance for cardiomyopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	rs148158093	0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000169.3(GLA):c.123C>T (p.Thr41=)	rs137902198	0.00017
NM_000169.3(GLA):c.-8C>G	rs371291716	0.00014
NM_000169.3(GLA):c.48T>G (p.Leu16=)	rs201449986	0.00011
NM_000169.3(GLA):c.601T>G (p.Ser201Ala)	rs782164447	0.00003
NM_000169.3(GLA):c.457G>A (p.Asp153Asn)	rs370299397	0.00002
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn)	rs781788693	0.00001
NM_000169.3(GLA):c.1234A>G (p.Thr412Ala)	rs2147470521
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	rs879254061
NM_000169.3(GLA):c.465T>G (p.Asp155Glu)	rs782197072
NM_000169.3(GLA):c.616C>T (p.Leu206Phe)	rs730880448
NM_000169.3(GLA):c.639+3G>A	rs1569303777
NM_000169.3(GLA):c.659G>A (p.Arg220Gln)	rs869312378
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)	rs397515871

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