List of variants in gene BCKDHA reported as benign by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)	rs4674	0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)	rs284652	0.66509
NM_000709.4(BCKDHA):c.376-10A>C	rs3213861	0.59120
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	rs11549936	0.07892
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)	rs34492894	0.02893
NM_000709.4(BCKDHA):c.996-6G>A	rs74586298	0.02713
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)	rs10404506	0.01970
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	rs34541442	0.00893
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_000709.4(BCKDHA):c.995+9C>T	rs13343330	0.00750
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	rs55940366	0.00365
NM_000709.4(BCKDHA):c.484+5G>A	rs149899007	0.00298
NM_000709.4(BCKDHA):c.996-18C>T	rs201511678	0.00271
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	rs17173144	0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)	rs61737367	0.00101
NM_000709.4(BCKDHA):c.376-4C>T	rs199725420	0.00084
NM_000709.4(BCKDHA):c.646+13G>A	rs201333801	0.00038
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)	rs148090804	0.00016
NM_000709.4(BCKDHA):c.288+10G>A	rs376894084	0.00007
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)	rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)	rs11549935
NM_000709.4(BCKDHA):c.1167+13del	rs2122146856
NM_000709.4(BCKDHA):c.1167+17C>G	rs550593850
NM_000709.4(BCKDHA):c.376-3dup	rs2123259752
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)	rs114716391
NM_000709.4(BCKDHA):c.995+18del
NM_000709.4(BCKDHA):c.995+18dup

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