List of variants studied for parathyroid gland disorder by MGZ Medical Genetics Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)	rs761102084	0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)	rs1060499974	0.00001
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys)	rs1360294910
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	rs1482119762
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	rs137854532
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)	rs761695866
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)	rs386134256
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)	rs1592646211
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)	rs1677688362
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)	rs760591174

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