ClinVar Miner

List of variants studied for Perrault syndrome by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170 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_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006012.4(CLPP):c.624C>G (p.Ile208Met) rs1555719766
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) rs864309643
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975

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