List of variants in gene AFG3L2 reported as uncertain significance for cerebellar degeneration

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.114+12C>T	rs758470020	0.00124
NM_006796.3(AFG3L2):c.-92T>C	rs574201536	0.00087
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	rs139469785	0.00024
NM_006796.2(AFG3L2):c.-179C>T	rs576218520	0.00016
NM_006796.3(AFG3L2):c.-139T>C	rs542643055	0.00010
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)	rs201966169	0.00009
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)	rs758811358	0.00004
NM_006796.3(AFG3L2):c.-56C>A	rs886053619	0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)	rs1373473541	0.00002
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)	rs1263405472	0.00001
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=)	rs1308467906	0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)	rs915684170	0.00001
NM_006796.3(AFG3L2):c.-18A>G	rs886053618
NM_006796.3(AFG3L2):c.-78C>A	rs1909190689
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp)	rs1168932758
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	rs375098002
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)	rs1908301962
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg)	rs2143234608
NM_006796.3(AFG3L2):c.1664-5G>C	rs886053615
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)	rs1598820805
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)	rs1907781566
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)	rs1908967089
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)	rs886053616
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)	rs866272063
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=)	rs1908570292
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)	rs886053617

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