List of variants studied for parathyroid gland disorder by Genetics and Molecular Pathology, SA Pathology

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_024529.5(CDC73):c.-11G>A	rs80356643	0.00056
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	rs886041637	0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)	rs863224810	0.00001
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile)	rs2107649929
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)	rs2107650645
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	rs2074565202
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg)	rs2146289554
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)	rs386134250
NM_001370259.2(MEN1):c.445+1G>T
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)	rs537546612
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)	rs1675465120

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