List of variants in gene RARS2 studied for Pontoneocerebellar hypoplasia

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.472_474del (p.Lys158del)	rs757743894	0.00016
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00006
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)	rs759331139	0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	rs1258569046	0.00001
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu)	rs760844669
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
NM_020320.5(RARS2):c.1511+1G>A	rs1772453347
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)	rs757778880
NM_020320.5(RARS2):c.297+1G>C
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)	rs199862050
NM_020320.5(RARS2):c.3G>A (p.Met1Ile)	rs2128238503
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
NM_020320.5(RARS2):c.613-3927C>T	rs1410239766
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)	rs755936301

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