ClinVar Miner

List of variants reported as likely benign for autosomal recessive disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_022095.4(ZNF335):c.3868C>T (p.Gln1290Ter) rs770300456 0.00003
NM_001171.6(ABCC6):c.2996-7_2996-4del
NM_017433.5(MYO3A):c.905C>T (p.Thr302Met)

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