ClinVar Miner

List of variants studied for Perrault syndrome 2

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_012208.4(HARS2):c.1461+36A>G rs2530234 0.95353
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_012208.4(HARS2):c.1254G>C (p.Gln418His) rs138090816 0.00015
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711 0.00007
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818 0.00001
NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) rs1229581230 0.00001
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) rs749799529 0.00001
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)
NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp) rs1429114032
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012208.4(HARS2):c.1462-3C>T
NM_012208.4(HARS2):c.322T>C (p.Tyr108His) rs2149852638
NM_012208.4(HARS2):c.399+1G>A rs2149852789
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309

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