List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Natera, Inc.

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

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.450G>C (p.Val150=)	rs151098534	0.00121
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)	rs559384926	0.00041
NM_022132.5(MCCC2):c.738+9A>G	rs776559643	0.00033
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)	rs143156315	0.00021
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)	rs202100813	0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)	rs141676987	0.00015
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)	rs750638270	0.00014
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)	rs144578800	0.00012
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.1488+3C>T	rs374049769	0.00004
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)	rs1257849672	0.00004
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)	rs770437473	0.00004
NM_022132.5(MCCC2):c.129+3A>G	rs1352606118	0.00002
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)	rs759809368	0.00001
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)	rs760363054	0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)	rs758506791	0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	rs745367639	0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)	rs766384881	0.00001
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)	rs778172446	0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)	rs727504009	0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)	rs535519604	0.00001
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)	rs753735697	0.00001
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)	rs376237028	0.00001
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)	rs371587906
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)	rs766591766
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)	rs758806872
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)	rs770208071

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