ClinVar Miner

List of variants in gene P3H2 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_018192.4(P3H2):c.1700-108T>C rs710543 0.92801
NM_018192.4(P3H2):c.1549-48A>T rs710545 0.90555
NM_018192.4(P3H2):c.956-84T>C rs3114672 0.77501
NM_018192.4(P3H2):c.1098+288T>G rs2594177 0.77495
NM_018192.4(P3H2):c.823+272A>T rs1374920 0.76511
NM_018192.4(P3H2):c.1189-204T>G rs710559 0.76092
NM_018192.4(P3H2):c.1229+139A>G rs710558 0.76088
NM_018192.4(P3H2):c.634-17C>T rs1719599 0.74024
NM_018192.4(P3H2):c.634-18C>T rs1719598 0.74023
NM_018192.4(P3H2):c.1325-91C>T rs1985690 0.52770
NM_018192.4(P3H2):c.1548+199C>T rs1815171 0.52469
NM_018192.4(P3H2):c.1893+36G>T rs3732920 0.48015
NM_018192.4(P3H2):c.481-257T>A rs1522931 0.46834
NM_001134418.2(P3H2):c.-64+872G>A rs938511 0.36323
NM_018192.4(P3H2):c.1700-342T>C rs34360072 0.31510
NM_018192.4(P3H2):c.507A>G (p.Glu169=) rs9821880 0.29539
NM_018192.4(P3H2):c.480+23C>A rs35346557 0.23336
NM_018192.4(P3H2):c.633+276T>C rs67120141 0.22673
NM_018192.4(P3H2):c.2034+189G>C rs1719581 0.21447
NM_018192.4(P3H2):c.2034+263G>A rs837679 0.21157
NM_018192.4(P3H2):c.1549-14_1549-13insG rs200458285 0.20293
NM_018192.4(P3H2):c.1700-273C>T rs1540816 0.20168
NM_018192.4(P3H2):c.696C>T (p.His232=) rs1719600 0.18737
NM_018192.4(P3H2):c.481-61225G>A rs9882792 0.18676
NM_018192.4(P3H2):c.633+277G>A rs1666431 0.18664
NM_018192.4(P3H2):c.1098+28C>T rs753024953 0.08135
NM_018192.4(P3H2):c.1699+102C>T rs6444410 0.07545
NM_018192.4(P3H2):c.955+35G>A rs75374438 0.03593
NM_018192.4(P3H2):c.824-281A>G rs7637518 0.02373
NM_018192.4(P3H2):c.379C>T (p.Arg127Cys) rs74992786 0.02234
NM_018192.4(P3H2):c.481-299A>G rs78696821 0.01968
NM_018192.4(P3H2):c.481-80_481-69del rs202156373 0.01961
NM_018192.4(P3H2):c.612C>T (p.Asp204=) rs34128856 0.01919
NM_018192.4(P3H2):c.1098+300G>C rs7619430 0.01615
NM_018192.4(P3H2):c.2034+287G>A rs143985056 0.01532
NM_018192.4(P3H2):c.1548+19T>C rs6770264 0.01440
NM_018192.4(P3H2):c.481-3T>C rs9839411 0.01398
NM_018192.4(P3H2):c.972A>G (p.Lys324=) rs34558237 0.01372
NM_018192.4(P3H2):c.1452+7A>T rs115626519 0.01189
NM_018192.4(P3H2):c.1549-15G>T rs181950137 0.01178
NM_018192.4(P3H2):c.634-50G>T rs9871856 0.00577
NM_018192.4(P3H2):c.1222G>A (p.Glu408Lys) rs35737596 0.00473
NM_018192.4(P3H2):c.1230-39C>G rs76256825 0.00342
NM_018192.4(P3H2):c.1377G>A (p.Leu459=) rs35257648 0.00281
NM_018192.4(P3H2):c.1549-10T>G rs2278760 0.00181
NM_018192.4(P3H2):c.1773C>T (p.Asn591=) rs75714029 0.00128
NM_018192.4(P3H2):c.555G>T (p.Gln185His) rs117688924 0.00041
NM_018192.4(P3H2):c.955+19G>A rs186562341 0.00041
NM_018192.4(P3H2):c.1169G>A (p.Gly390Glu) rs35904452 0.00040
NM_018192.4(P3H2):c.889C>T (p.Arg297Cys) rs115596050 0.00016
NM_018192.4(P3H2):c.1549-11_1549-10insG rs528953692 0.00011
NM_018192.4(P3H2):c.634-19C>T rs773171967 0.00009
NM_018192.4(P3H2):c.1229+8C>T rs766220278 0.00006
NM_018192.4(P3H2):c.1800C>T (p.Tyr600=) rs114217732 0.00006
NM_018192.4(P3H2):c.2034+16G>A rs370823745 0.00006
NM_018192.4(P3H2):c.568A>G (p.Asn190Asp) rs578162225 0.00003
NM_018192.4(P3H2):c.1549-13T>G rs2278759 0.00001
NM_001134418.2(P3H2):c.-64+863del rs5855306
NM_018192.4(P3H2):c.*188CT[10] rs3062112
NM_018192.4(P3H2):c.*188CT[13] rs3062112
NM_018192.4(P3H2):c.*188CT[14] rs3062112
NM_018192.4(P3H2):c.*188CT[16] rs3062112
NM_018192.4(P3H2):c.1098+205dup rs771677163
NM_018192.4(P3H2):c.1098+46_1098+47del rs551936985
NM_018192.4(P3H2):c.1098+47del rs551936985
NM_018192.4(P3H2):c.1189-16del
NM_018192.4(P3H2):c.1189-17del rs11311050
NM_018192.4(P3H2):c.1189-17dup rs11311050
NM_018192.4(P3H2):c.1189-18_1189-17del rs11311050
NM_018192.4(P3H2):c.1229+218_1229+221del rs10532307
NM_018192.4(P3H2):c.1325-224G>A rs710547
NM_018192.4(P3H2):c.150C>T (p.Ser50=)
NM_018192.4(P3H2):c.1549-14_1549-13dup rs71674435
NM_018192.4(P3H2):c.1549-14dup rs71674435
NM_018192.4(P3H2):c.1549-15_1549-14dup rs1553872129
NM_018192.4(P3H2):c.1549-4del rs71674435
NM_018192.4(P3H2):c.1699+253dup rs148423217
NM_018192.4(P3H2):c.1807C>A (p.Arg603=) rs35067805
NM_018192.4(P3H2):c.480+48C>T rs710596
NM_018192.4(P3H2):c.481-115_481-114insAAC rs10645374
NM_018192.4(P3H2):c.481-128dup rs1553874169
NM_018192.4(P3H2):c.481-9del rs371335199
NM_018192.4(P3H2):c.481-9dup rs371335199
NM_018192.4(P3H2):c.633+14G>C rs190084493
NM_018192.4(P3H2):c.634-18_634-17delinsTT rs375368184
NM_018192.4(P3H2):c.634-50GTTT[8] rs3836444
NM_018192.4(P3H2):c.782A>T (p.Glu261Val) rs75523528
NM_018192.4(P3H2):c.823+17dup
NM_018192.4(P3H2):c.824-284G>A rs1719607

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