List of variants in gene BCKDHA reported as likely benign by GeneDx

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.*125C>T	rs140867211	0.00851
NM_000709.4(BCKDHA):c.996-68C>T	rs10407077	0.00784
NM_000709.4(BCKDHA):c.646+149A>G	rs78727437	0.00754
NM_000709.4(BCKDHA):c.289-45C>G	rs200242482	0.00447
NM_000709.4(BCKDHA):c.996-18C>T	rs201511678	0.00271
NM_000709.4(BCKDHA):c.485-28G>A	rs114178789	0.00186
NM_000709.4(BCKDHA):c.853+30C>T	rs150511115	0.00139
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.708C>T (p.Phe236=)	rs146932786	0.00092
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)	rs374403946	0.00062
NM_000709.4(BCKDHA):c.289-5C>T	rs200646708	0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)	rs61736656	0.00052
NM_000709.4(BCKDHA):c.288C>T (p.His96=)	rs148571328	0.00043
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_000709.4(BCKDHA):c.646+13G>A	rs201333801	0.00038
NM_000709.3(BCKDHA):c.-25G>C	rs202084220	0.00028
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)	rs80014754	0.00028
NM_000709.4(BCKDHA):c.375+4C>T	rs377496852	0.00025
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)	rs147021347	0.00021
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)	rs150700696	0.00020
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)	rs148090804	0.00016
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)	rs138025447	0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)	rs143608852	0.00016
NM_000709.4(BCKDHA):c.995+19G>A	rs373076000	0.00014
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)	rs200363605	0.00009
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=)	rs376446100	0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)	rs398123514	0.00006
NM_000709.4(BCKDHA):c.*68G>A	rs375492462	0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)	rs373390136	0.00004
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)	rs775754845	0.00003
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)	rs749795206	0.00001
NC_000019.10:g.41397669T>A	rs530303012
NM_000709.3(BCKDHA):c.-22C>A	rs201197268
NM_000709.4(BCKDHA):c.1167+17C>G	rs550593850
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)	rs140322984
NM_000709.4(BCKDHA):c.853+11T>C	rs1555767032

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