ClinVar Miner

List of variants studied for Perrault syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000414.4(HSD17B4):c.1333+1G>C rs1369305726 0.00001
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs) rs2481388247
NM_021830.5(TWNK):c.742_745del (p.Phe248fs)

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