ClinVar Miner

List of variants studied for anemia by New York Genome Center

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
G6PD A-
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn) rs760205675
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_020207.7(ERCC6L2):c.789-6_789-3del rs754561683

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