ClinVar Miner

Variants in gene PPT1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 0.00003
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.4(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.4(PPT1):c.29_41del (p.Leu10fs) rs762226836
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.433+1G>A rs1553167415
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.4(PPT1):c.532del (p.Glu178fs) rs878853325
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.4(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000310.4(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.798+1G>T rs878853929
NM_000310.4(PPT1):c.798+2T>C rs1553166337
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter) rs386833668

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