List of variants reported as pathogenic by Dept of Medicine and Surgery, University of Milano-Bicocca

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.1012T>A (p.Cys338Ser)	rs769313989
NM_000096.4(CP):c.1208+1G>A	rs1553762556
NM_000096.4(CP):c.1865-291_2077+352del	rs1553759338
NM_000096.4(CP):c.2078-74_2241del	rs1553759167
NM_000096.4(CP):c.650T>C (p.Phe217Ser)	rs386134125
NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del)	rs1927509977
NM_001374504.1(TMPRSS6):c.336+2T>G	rs1930010425
NM_003227.3(TFR2):c.1540delG	rs1803316071
NM_003227.4(TFR2):c.671T>G (p.Leu224Arg)	rs1803502704
NM_014585.6(SLC40A1):c.-205A>C	rs1553495699
NM_014585.6(SLC40A1):c.1049C>A (p.Ala350Asp)	rs1553493234
NM_014585.6(SLC40A1):c.1481G>A (p.Gly494Asp)	rs1553492997
NM_014585.6(SLC40A1):c.1592T>C (p.Val531Ala)	rs2030755066
NM_014585.6(SLC40A1):c.479T>C (p.Val160Ala)	rs1553494286
NM_014585.6(SLC40A1):c.541G>A (p.Asp181Asn)	rs1553493481
NM_014585.6(SLC40A1):c.544C>G (p.Gln182Glu)	rs1553493479
NM_014585.6(SLC40A1):c.697C>G (p.Leu233Val)	rs186912553
NM_021175.4(HAMP):c.176G>C (p.Arg59Pro)	rs2066319871

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