ClinVar Miner

List of variants studied for anemia by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.3+1G>T
NM_001032.5(RPS29):c.63-6T>G rs1594573747
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_020207.7(ERCC6L2):c.3492+2T>G rs1588013817
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_198535.3(ZNF699):c.175+1G>A rs749115647

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