ClinVar Miner

List of variants studied for disorder of glycolysis by Natera, Inc.

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
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.495T>A (p.Ile165=) rs148858610 0.00046
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) rs374134161 0.00034
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=) rs748877741 0.00009
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) rs146318448 0.00008
NM_000289.6(PFKM):c.1992+5G>A rs180864041 0.00008
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712 0.00005
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=) rs933392379 0.00005
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669 0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 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_000525.4(KCNJ11):c.-6G>A rs554874150 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000289.6(PFKM):c.1127+10T>C rs759084382 0.00003
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888 0.00003
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157 0.00003
NM_000525.4(KCNJ11):c.579C>T (p.His193=) rs762089425 0.00003
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) rs375592512 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) rs576835893 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=) rs774849547 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075 0.00001
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) rs755956424 0.00001
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) rs1251670627 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys) rs371275937 0.00001
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=) rs104894236 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=) rs1260020267 0.00001
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=) rs759487287 0.00001
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=) rs746308356 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1192-3_1192-2del rs780969059
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu) rs1950983081
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala) rs1948422341
NM_000289.6(PFKM):c.846G>A (p.Leu282=) rs1310081048
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys) rs1564864998
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser) rs1953567712
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg) rs376773562
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=) rs376773562
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=) rs1287370462
NM_000525.4(KCNJ11):c.558T>C (p.His186=) rs1953583830
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495

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