ClinVar Miner

List of variants studied for idiopathic disease by Counsyl

Included ClinVar conditions (89):
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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_014625.4(NPHS2):c.85G>A (p.Ala29Thr) rs561887984 0.00024
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014625.4(NPHS2):c.671G>A (p.Arg224His) rs138545216 0.00010
NM_014625.4(NPHS2):c.795-12T>G rs376637418 0.00004
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln) rs751767084 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.695C>T (p.Thr232Ile) rs774199987 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747 0.00001
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977 0.00001
NM_014625.4(NPHS2):c.378+1G>A rs762631237 0.00001
NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter) rs755972674 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.873+2T>A rs967339926 0.00001
NM_014625.4(NPHS2):c.88G>A (p.Glu30Lys) rs1477180313 0.00001
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe) rs748203170 0.00001
NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del) rs1553312282
NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs) rs1553316648
NM_014625.4(NPHS2):c.1062dup (p.Asn355fs) rs1057516900
NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del) rs1553312159
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter) rs1167223941
NM_014625.4(NPHS2):c.166dup (p.Glu56fs) rs1553316611
NM_014625.4(NPHS2):c.191TGG[1] (p.Val65del) rs1553316600
NM_014625.4(NPHS2):c.249del (p.Leu84fs) rs1553316575
NM_014625.4(NPHS2):c.275-2A>G rs1553315173
NM_014625.4(NPHS2):c.369del (p.Cys124fs) rs1057516395
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp) rs139290621
NM_014625.4(NPHS2):c.3G>A (p.Met1Ile) rs1057516680
NM_014625.4(NPHS2):c.451+15dup rs748179295
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.523C>T (p.Pro175Ser) rs1472510122
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.631T>A (p.Ser211Thr) rs779736229
NM_014625.4(NPHS2):c.67_69del (p.Glu23del) rs1398961188
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu) rs1553313479
NM_014625.4(NPHS2):c.795-1G>A rs1057516523
NM_014625.4(NPHS2):c.7AGG[1] (p.Arg4del) rs1553316672
NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter) rs1057517164
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014625.4(NPHS2):c.873+1G>A rs1553312833
NM_014625.4(NPHS2):c.874-1G>A rs776016942
NM_014625.4(NPHS2):c.874-2A>C rs1031744496
NM_014625.4(NPHS2):c.934C>G (p.Leu312Val) rs1553312393
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868

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