ClinVar Miner

List of variants in gene HSD17B4 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1767+57C>T rs2636961 0.62409
NM_000414.4(HSD17B4):c.350-283G>A rs460274 0.62375
NM_000414.4(HSD17B4):c.1437+200G>A rs32664 0.62273
NM_000414.4(HSD17B4):c.1261+281G>A rs2636968 0.62251
NM_000414.4(HSD17B4):c.280+261A>T rs2459726 0.60024
NM_000414.4(HSD17B4):c.869-312A>C rs422297 0.59348
NM_000414.4(HSD17B4):c.715-194C>T rs2546210 0.55656
NM_000414.4(HSD17B4):c.434+120A>G rs463513 0.51367
NM_000414.4(HSD17B4):c.59-178G>A rs32651 0.51022
NM_000414.4(HSD17B4):c.1437+150G>A rs32663 0.44359
NM_000414.4(HSD17B4):c.1261+47A>G rs455949 0.44330
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000414.4(HSD17B4):c.281-88C>T rs2259347 0.38905
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.434+44T>C rs457106 0.36386
NM_000414.4(HSD17B4):c.113-205T>C rs2451816 0.36225
NM_000414.4(HSD17B4):c.1261+46C>T rs460945 0.28684
NM_000414.4(HSD17B4):c.1210-78T>C rs257969 0.27308
NM_000414.4(HSD17B4):c.1993+74G>C rs17145464 0.27235
NM_000414.4(HSD17B4):c.1573+247G>A rs1155777 0.26872
NM_000414.4(HSD17B4):c.714+73G>C rs12653702 0.16857
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.1437+306T>A rs68024523 0.13686
NM_000414.4(HSD17B4):c.1334-229A>T rs73249978 0.12105
NM_000414.4(HSD17B4):c.1334-205T>C rs56349852 0.12101
NM_000414.4(HSD17B4):c.1680+186C>T rs11746780 0.11064
NM_000414.4(HSD17B4):c.1681-93T>C rs73251672 0.10039
NM_000414.4(HSD17B4):c.740-291T>A rs79701262 0.09845
NM_000414.4(HSD17B4):c.281-87G>A rs13152959 0.09522
NM_000414.4(HSD17B4):c.2122-34C>T rs28943593 0.09221
NM_000414.4(HSD17B4):c.1768-264C>T rs80248925 0.09182
NM_000414.4(HSD17B4):c.2122-52T>G rs33926345 0.06764
NM_000414.4(HSD17B4):c.1993+164G>T rs2636963 0.06648
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_000414.4(HSD17B4):c.1855-82T>A rs34554885 0.04652
NM_000414.4(HSD17B4):c.868+149A>G rs34480380 0.04402
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_000414.4(HSD17B4):c.1333+139A>T rs34544399 0.04071
NM_000414.4(HSD17B4):c.622+261A>G rs11241506 0.04058
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.715-158T>A rs6894991 0.03507
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000414.4(HSD17B4):c.1574-185T>G rs2678073 0.02657
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.349+39T>C rs2678069 0.02259
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000414.4(HSD17B4):c.59-33C>G rs2678083 0.02088
NM_000414.4(HSD17B4):c.58+278C>G rs11949545 0.01901
NM_000414.4(HSD17B4):c.2121+266T>A rs74872780 0.01881
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.113-2467A>G rs439954
NM_000414.4(HSD17B4):c.113-69CA[8] rs10601221
NM_000414.4(HSD17B4):c.1334-350C>T rs32662
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1573+112del rs146163821
NM_000414.4(HSD17B4):c.1574-193_1574-192dup rs748728829
NM_000414.4(HSD17B4):c.1680+272_1680+273insGTATATATATAT rs6149207
NM_000414.4(HSD17B4):c.1993+163_1993+164insT rs59962115
NM_000414.4(HSD17B4):c.1993+164_1993+165del rs34403323
NM_000414.4(HSD17B4):c.1993+164_1993+165insT rs1554069007
NM_000414.4(HSD17B4):c.1993+164_1993+165insTGT rs1554069007
NM_000414.4(HSD17B4):c.1993+164_1993+167del rs147060621
NM_000414.4(HSD17B4):c.1993+165GT[15] rs57579065
NM_000414.4(HSD17B4):c.2122-182dup rs147689714
NM_000414.4(HSD17B4):c.2122-57del rs377089667
NM_000414.4(HSD17B4):c.280+236C>T rs10078097
NM_000414.4(HSD17B4):c.622+253del rs202023697

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