List of variants in gene LOC130005549, PDHX studied for Pyruvate dehydrogenase E3-binding protein deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.63C>T (p.Pro21=)	rs2956109	0.78720
NM_003477.3(PDHX):c.108T>C (p.Ser36=)	rs1049307	0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)	rs1049306	0.19588
NM_003477.3(PDHX):c.-4C>G	rs3818401	0.12767
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	rs11539201	0.02438
NM_003477.3(PDHX):c.160+15C>G	rs187304189	0.00501
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)	rs118136428	0.00131
NM_003477.3(PDHX):c.-23C>A	rs201033364	0.00068
NM_003477.3(PDHX):c.-7C>T	rs751680964	0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00001
NM_003477.2(PDHX):c.78_162del
NM_003477.3(PDHX):c.-27C>T	rs529801753
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	rs1064796807
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)	rs200419151
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
NM_003477.3(PDHX):c.88_91del (p.Lys30fs)	rs724159828

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