List of variants reported as likely pathogenic by Medical Genetics Laboratory, Tarbiat Modares University

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg)	rs780393773	0.00001
NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)
NM_001127255.2(NLRP7):c.277+1G>A
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)
NM_016529.6(ATP8A2):c.1868-2A>G	rs2039720333
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)	rs2076013475

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