List of variants in gene AFG3L2 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	rs11553521	0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	rs11080572	0.67857
NM_006796.3(AFG3L2):c.752+6C>T	rs8097342	0.67671
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	rs139469785	0.00024
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp)	rs180989155	0.00004
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)	rs1373473541	0.00002
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	rs912546325	0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	rs387906889	0.00001
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	rs2143165387
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	rs375098002
NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys)	rs1908302608
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)	rs1907907851
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	rs727502823
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer)	rs1907906060
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)	rs764254189
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	rs151344514
NM_006796.3(AFG3L2):c.361A>C (p.Lys121Gln)
NM_006796.3(AFG3L2):c.634dup (p.Val212fs)	rs2143196334
NM_006796.3(AFG3L2):c.753-55T>C	rs7407640
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr)	rs1909186789
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	rs1908569446

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