ClinVar Miner

List of variants studied for familial hemolytic anemia by Natera, Inc.

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
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_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) rs10011440 0.00073
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_000289.6(PFKM):c.495T>A (p.Ile165=) rs148858610 0.00046
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) rs151204426 0.00026
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) rs374820674 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 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_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712 0.00005
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 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_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 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_001386140.1(MTTP):c.1668C>T (p.Asp556=) rs751421159 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 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_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 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_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) rs749203075 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) rs781654995 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 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_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) rs1578257346
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111

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