List of variants in gene combination COX15, ENTPD7 reported as uncertain significance for Leigh syndrome

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_020354.5(ENTPD7):c.*4914T>C	rs76530337	0.01896
NM_020354.5(ENTPD7):c.*6030G>A	rs114201692	0.00727
NM_020354.5(ENTPD7):c.*4789T>C	rs148302095	0.00414
NM_020354.5(ENTPD7):c.*5167G>A	rs12241912	0.00342
NM_020354.5(ENTPD7):c.*5113T>C	rs76656125	0.00341
NM_020354.5(ENTPD7):c.*5889A>G	rs11190252	0.00339
NM_020354.5(ENTPD7):c.*5645C>A	rs1000984	0.00191
NM_020354.5(ENTPD7):c.*4621A>C	rs56206689	0.00164
NM_020354.5(ENTPD7):c.*4296T>C	rs74152722	0.00163
NM_020354.5(ENTPD7):c.*5520C>T	rs548503022	0.00150
NM_020354.5(ENTPD7):c.*4339C>T	rs764641759	0.00030
NM_020354.5(ENTPD7):c.*4931G>T	rs576990987	0.00023
NM_020354.5(ENTPD7):c.*5320C>G	rs914156906	0.00010
NM_020354.5(ENTPD7):c.*5989T>C	rs188328622	0.00009
NM_078470.6(COX15):c.*3670G>A	rs886046600	0.00007
NM_020354.5(ENTPD7):c.*5261C>G	rs988381164	0.00006
NM_020354.5(ENTPD7):c.*4550G>T	rs1009446425	0.00003
NM_020354.5(ENTPD7):c.*5002G>C	rs886046597	0.00003
NM_020354.5(ENTPD7):c.*5079T>C	rs1033966106	0.00003
NM_020354.5(ENTPD7):c.*5401T>C	rs769776249	0.00003
NM_020354.5(ENTPD7):c.*4519C>T	rs1381915856	0.00002
NM_020354.5(ENTPD7):c.*4579G>A	rs886046595	0.00001
NM_020354.5(ENTPD7):c.*5890C>T	rs886046599	0.00001
NM_020354.5(ENTPD7):c.*4290C>G	rs886046594
NM_020354.5(ENTPD7):c.*4976C>T	rs886046596
NM_020354.5(ENTPD7):c.*5521G>A	rs886046598
NM_078470.6(COX15):c.*3362T>C	rs1296504635
NM_078470.6(COX15):c.*3638C>T	rs2036362442

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