ClinVar Miner

List of variants in gene NDUFA11 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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NM_001193375.2(NDUFA11):c.314-1384dup rs1599691161
NM_175614.4(NDUFA11):c.-300G>A rs563822139
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.*59C>G rs191571307
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)
NM_175614.5(NDUFA11):c.97+5G>A rs1348957889

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