List of variants reported as likely pathogenic for Permanent neonatal diabetes mellitus

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)	rs758737171	0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	rs141145502	0.00001
NM_000207.3(INS):c.26C>G (p.Pro9Arg)	rs1564912403
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)	rs121908277
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)	rs1554904936
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)	rs193922408
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)	rs1953591118
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)	rs557160758
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)	rs1564865232

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