ClinVar Miner

List of variants studied for NPHP3-related Meckel-like syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
NM_153240.5(NPHP3):c.*1020T>C rs186828918
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G
NM_153240.5(NPHP3):c.*1098C>T rs886057995
NM_153240.5(NPHP3):c.*1121A>G rs576904017
NM_153240.5(NPHP3):c.*1176G>A rs183658380
NM_153240.5(NPHP3):c.*1184A>T
NM_153240.5(NPHP3):c.*1188A>G
NM_153240.5(NPHP3):c.*1213T>C rs886057994
NM_153240.5(NPHP3):c.*139T>G rs886058001
NM_153240.5(NPHP3):c.*141T>C
NM_153240.5(NPHP3):c.*178T>G
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*351A>T
NM_153240.5(NPHP3):c.*437C>T
NM_153240.5(NPHP3):c.*46A>G rs530016526
NM_153240.5(NPHP3):c.*519C>T rs3891704
NM_153240.5(NPHP3):c.*626C>G
NM_153240.5(NPHP3):c.*657C>T rs79224795
NM_153240.5(NPHP3):c.*692C>T rs886057997
NM_153240.5(NPHP3):c.*759G>A rs116338839
NM_153240.5(NPHP3):c.*784C>T rs376015619
NM_153240.5(NPHP3):c.*785G>A rs6774366
NM_153240.5(NPHP3):c.*815G>A rs141464909
NM_153240.5(NPHP3):c.*852C>A
NM_153240.5(NPHP3):c.*926C>T
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1118+11A>C
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666
NM_153240.5(NPHP3):c.1524+11G>T
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2089-9C>T rs141397228
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703
NM_153240.5(NPHP3):c.2571-12C>G rs886058003
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066
NM_153240.5(NPHP3):c.3570+4A>G rs374989123
NM_153240.5(NPHP3):c.3697-7T>A
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)
NM_153240.5(NPHP3):c.520-10C>G rs200144727
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449

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