ClinVar Miner

List of variants in gene PTPRO studied for familial nephrotic syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_030667.3(PTPRO):c.508+19G>A rs138770041 0.01959
NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys) rs61754411 0.01921
NM_030667.3(PTPRO):c.2841G>A (p.Leu947=) rs61754412 0.00554
NM_030667.3(PTPRO):c.2406T>C (p.Ser802=) rs61741744 0.00293
NM_030667.3(PTPRO):c.661+9C>T rs191278870 0.00027
NM_030667.3(PTPRO):c.1611G>T (p.Met537Ile) rs141255287 0.00022
NM_030667.3(PTPRO):c.1776C>T (p.Ser592=) rs369419924 0.00001
NM_030667.3(PTPRO):c.497T>C (p.Met166Thr) rs376857700 0.00001
NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile) rs1942611245
NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val) rs746574149
NM_030667.3(PTPRO):c.2627+1G>T rs1591732280
NM_030667.3(PTPRO):c.2750C>T (p.Pro917Leu)
NM_030667.3(PTPRO):c.2829+1G>A rs1591750243
NM_030667.3(PTPRO):c.2920T>C (p.Tyr974His)
NM_030667.3(PTPRO):c.2997+18del rs751345733
NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=) rs144347297
NM_030667.3(PTPRO):c.3226T>G (p.Trp1076Gly)
NM_030667.3(PTPRO):c.3418G>A (p.Val1140Met)
NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala) rs528784695
NM_030667.3(PTPRO):c.612C>T (p.Thr204=) rs139561990
NM_030667.3(PTPRO):c.882G>A (p.Thr294=)

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