List of variants reported as pathogenic by Rare Diseases Genetics and Genomics, Islamia College Peshawar

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	rs541171482	0.00003
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)	rs370744140	0.00002
NM_000070.3(CAPN3):c.379+3A>G	rs1164215001	0.00001
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	rs767325554	0.00001
NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)	rs945600680
NM_020366.4(RPGRIP1):c.1151+1G>A	rs751096098
NM_201384.3(PLEC):c.864GCT[3] (p.Leu292del)	rs1554721492

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