ClinVar Miner

List of variants reported for Permanent neonatal diabetes mellitus by UniProtKB/Swiss-Prot

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.104T>C (p.Leu35Pro) rs121908273
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.250G>A (p.Gly84Arg) rs121908274
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.287G>C (p.Cys96Ser) rs80356671
NM_000207.3(INS):c.302C>G (p.Ser101Cys) rs121908276
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.85C>G (p.His29Asp) rs121908272
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664

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