ClinVar Miner

List of variants in gene NPHP3, NPHP3-ACAD11 studied for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.4(NPHP3):c.1525-5delT rs762115717
NM_153240.4(NPHP3):c.3125+12dupT rs11396595
NM_153240.4(NPHP3):c.3126-4dupT rs398124547
NM_153240.5(NPHP3):c.*1020T>C rs186828918
NM_153240.5(NPHP3):c.*1078T>G rs886057996
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.*1213T>C rs886057994
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*139T>G rs886058001
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*46A>G rs530016526
NM_153240.5(NPHP3):c.*519C>T rs3891704
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
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.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
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.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.3009T>C (p.Asn1003=) rs372990521
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813
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.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.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
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
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004

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