ClinVar Miner

List of variants in gene PTF1A studied for monogenic diabetes

Included ClinVar conditions (61):
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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_178161.3(PTF1A):c.*15G>A rs10828415 0.08608
NM_178161.3(PTF1A):c.*190C>T rs74121767 0.04559
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_178161.3(PTF1A):c.162C>T (p.Ser54=) rs117678424 0.00110
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_178161.3(PTF1A):c.*117A>G rs886046911 0.00057
NM_178161.3(PTF1A):c.462G>T (p.Arg154=) rs1056021170 0.00032
NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp) rs569569636 0.00031
NM_178161.3(PTF1A):c.*306C>G rs769212869 0.00029
NM_178161.3(PTF1A):c.446C>T (p.Ala149Val) rs902236805 0.00029
NM_178161.3(PTF1A):c.*265A>G rs886046914 0.00020
NM_178161.3(PTF1A):c.102C>T (p.Asp34=) rs199831799 0.00014
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) rs181911810 0.00013
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) rs140097468 0.00012
NM_178161.3(PTF1A):c.*283T>C rs957501007 0.00010
NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr) rs549685905 0.00010
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) rs1162744670 0.00008
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) rs1443229654 0.00007
NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg) rs962887931 0.00004
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) rs886046909 0.00002
NM_178161.3(PTF1A):c.654C>A (p.Leu218=) rs886046910 0.00002
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) rs565666569 0.00001
NM_178161.3(PTF1A):c.*126_*129del rs533517653
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393
NM_178161.3(PTF1A):c.*272G>A rs1840935977
NM_178161.3(PTF1A):c.*316T>C rs1840936579
NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser) rs1192341489
NM_178161.3(PTF1A):c.201C>T (p.Cys67=) rs539214102
NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu) rs1840910398
NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser) rs1840910466
NM_178161.3(PTF1A):c.437_460del (p.Ala146_Arg154delinsGly)
NM_178161.3(PTF1A):c.440C>T (p.Ala147Val) rs1840912525
NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp) rs1840913860
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_178161.3(PTF1A):c.673T>G (p.Leu225Val)
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)
NM_178161.3(PTF1A):c.705dup (p.Pro236fs) rs886039746
NM_178161.3(PTF1A):c.784+1G>A
NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter) rs104894186
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) rs146089816
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)

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