List of variants in gene APIP, LOC130005547, 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_015957.4(APIP):c.-70T>C	rs2956112	0.78475
NM_015957.4(APIP):c.19C>T (p.Arg7Trp)	rs2956114	0.34353
NM_015957.4(APIP):c.57+77C>T	rs16926448	0.19609
NM_015957.4(APIP):c.-18G>A	rs761199870	0.00009
NM_015957.4(APIP):c.-30T>C	rs567329509	0.00006
NM_015957.4(APIP):c.-1C>T	rs774565620	0.00001
NM_015957.4(APIP):c.-14C>T	rs886048245
NM_015957.4(APIP):c.-53C>T	rs2956113
NM_015957.4(APIP):c.57+57C>G	rs988171497
NM_015957.4(APIP):c.57+78A>G	rs2016814
NM_015957.4(APIP):c.57+91G>T	rs561463212

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