ClinVar Miner

List of variants in gene BCKDHA reported as likely benign for not provided

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
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.975C>T (p.Leu325=) rs55940366 0.00365
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.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.117C>A (p.Pro39=) rs80014754 0.00028
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=) rs200363605 0.00009
NM_000709.4(BCKDHA):c.*68G>A rs375492462 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_000709.4(BCKDHA):c.819G>C (p.Thr273=) rs201991385

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