ClinVar Miner

List of variants studied for Mitochondrial complex 4 deficiency, nuclear type 4

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_004589.4(SCO1):c.702C>T (p.Val234=) rs199687831 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_004589.4(SCO1):c.94C>G (p.Pro32Ala) rs762163897 0.00009
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.430A>G (p.Thr144Ala) rs368098002 0.00004
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_004589.4(SCO1):c.203G>A (p.Ser68Asn) rs767557634 0.00002
NM_004589.4(SCO1):c.271G>A (p.Gly91Arg) rs753607085 0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.744C>T (p.Gly248=) rs768270136 0.00002
NM_004589.4(SCO1):c.242C>G (p.Pro81Arg) rs1224695466 0.00001
NM_004589.4(SCO1):c.394G>A (p.Gly132Ser) rs587777220 0.00001
NM_004589.4(SCO1):c.445C>T (p.Arg149Cys) rs762548598 0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys) rs775176412 0.00001
NM_004589.4(SCO1):c.10C>G (p.Leu4Val)
NM_004589.4(SCO1):c.261del (p.Ser88fs) rs770131276
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004589.4(SCO1):c.555del (p.Asp185fs)
NM_004589.4(SCO1):c.563-11CT[2]
NM_004589.4(SCO1):c.656-20C>G rs375940362
NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)

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