List of variants reported as uncertain significance for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Counsyl

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.-17C>G	rs367734665	0.00013
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)	rs760892123	0.00006
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)	rs200376609	0.00006
NM_000016.6(ACADM):c.388-3T>G	rs764942250	0.00004
NM_000016.6(ACADM):c.388-5G>A	rs759254037	0.00004
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00002
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	rs875989854	0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	rs745844469	0.00001
NM_000016.6(ACADM):c.599+5G>A	rs875989861	0.00001
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)	rs988752772
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)	rs776312173
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)	rs1553127382
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del)	rs1553127399
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu)	rs1553127400
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)	rs1057520214
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp)	rs1553122943
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)	rs1553123077
NM_000016.6(ACADM):c.387+2dup	rs1553123086
NM_000016.6(ACADM):c.388-19T>A	rs1553123252
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)	rs1553123858
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del)	rs1553123864
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.539_541del (p.Gly180del)	rs776120077
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.708+6G>T	rs958629659
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup)	rs760137614
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT	rs1553125391
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA	rs1553125389
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)	rs875989855

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