List of variants reported as pathogenic by Human Genetics Department, Tarbiat Modares University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	rs1571122183	0.00001
NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly)	rs760019076
NM_012233.3(RAB3GAP1):c.151-5T>G	rs1690127143
NM_032793.5(MFSD2A):c.229-25_229-23del	rs1570238098
NM_138691.3(TMC1):c.530T>C (p.Ile177Thr)	rs747645067

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