ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 17

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_152416.4(NDUFAF6):c.*16T>C rs2678832 0.91103
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_152416.4(NDUFAF6):c.715-3C>A rs200620409 0.00054
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln) rs569186576 0.00002
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs) rs863223932
NM_152416.4(NDUFAF6):c.239C>T (p.Pro80Leu)
NM_152416.4(NDUFAF6):c.266C>T (p.Ala89Val) rs2131775130
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152416.4(NDUFAF6):c.420+1_420+2dup rs1829405389
NM_152416.4(NDUFAF6):c.420+2_420+3insTA rs1829405956
NM_152416.4(NDUFAF6):c.421-13_421-12del rs79118993
NM_152416.4(NDUFAF6):c.485del (p.Asn162fs) rs762093523
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) rs1179490149
NM_152416.4(NDUFAF6):c.634G>A (p.Gly212Ser)
NM_152416.4(NDUFAF6):c.655G>C (p.Ala219Pro)
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086
NM_152416.4(NDUFAF6):c.907C>T (p.Arg303Ter)
NM_152416.4(NDUFAF6):c.967del (p.Tyr323fs)

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