ClinVar Miner

List of variants in gene PFKM reported as uncertain significance for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.*411G>A rs79507126 0.00345
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.*622G>A rs568063197 0.00043
NM_000289.5(PFKM):c.-174G>A rs765876195 0.00031
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
NM_000289.6(PFKM):c.*452T>C rs563335260 0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.*3C>T rs367783282 0.00011
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000289.6(PFKM):c.-17G>C rs952485517 0.00010
NM_000289.6(PFKM):c.1992+5G>A rs180864041 0.00008
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val) rs950246136 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752 0.00004
NM_000289.6(PFKM):c.*668G>T rs535423254 0.00003
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888 0.00003
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser) rs143485300 0.00003
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) rs375592512 0.00002
NM_000289.6(PFKM):c.1191+6G>T rs779486374 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys) rs763839998 0.00002
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 0.00002
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp) rs757746489 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) rs576835893 0.00002
NC_000012.12:g.48107374A>G rs755094329 0.00001
NM_000289.6(PFKM):c.*532A>G rs927525907 0.00001
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075 0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629 0.00001
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.1412+6T>C rs1417385697 0.00001
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys) rs1487607332 0.00001
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln) rs770276917 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile) rs537327893 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg) rs763214745 0.00001
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) rs755956424 0.00001
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr) rs748720104 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) rs1251670627 0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) rs1225653591 0.00001
NM_000289.5(PFKM):c.-176C>T rs886049451
NM_000289.5(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*564G>A rs1951034681
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu) rs1950380994
NM_000289.6(PFKM):c.1127+6G>T
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
NM_000289.6(PFKM):c.1191+12T>G rs2135983216
NM_000289.6(PFKM):c.1191+3A>G
NM_000289.6(PFKM):c.1192-3_1192-2del rs780969059
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) rs1266995508
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
NM_000289.6(PFKM):c.1342-15G>A
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val) rs774891977
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
NM_000289.6(PFKM):c.160-13A>G
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) rs1950621584
NM_000289.6(PFKM):c.1654-54_1654-46del
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
NM_000289.6(PFKM):c.1880+3A>G
NM_000289.6(PFKM):c.1880+5C>G
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
NM_000289.6(PFKM):c.2093-33G>C
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met) rs2136051089
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) rs1950938419
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys) rs1176082291
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu) rs1950983081
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
NM_000289.6(PFKM):c.638+4A>G
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala) rs1948422341
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
NM_000289.6(PFKM):c.846G>A (p.Leu282=) rs1310081048
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) rs193298317

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