List of variants reported as pathogenic for autosomal recessive disease by Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	rs146689036	0.00041
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter)	rs574007567	0.00001
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	rs1271250198
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del)	rs1557977732
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr)	rs1558014576
NM_005797.4(MPZL2):c.463del (p.Ala155fs)	rs759432278
NM_005797.4(MPZL2):c.[220C>T];[463del]
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)	rs772536599
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter)	rs1597787868
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]
NM_144498.4(OSBPL2):c.180_181del (p.His60fs)	rs1981202197
NM_144672.4(OTOA):c.1765del (p.Gln589fs)	rs775776282

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