ClinVar Miner

List of variants studied for anemia (disease) by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (281):
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ClinVar version:
Total variants: 53
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HGVS dbSNP
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
HBD, HBD87/HBB116 FUSION
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) rs1057518790
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
NM_000138.4(FBN1):c.6323G>A (p.Arg2108His) rs762659907
NM_000186.4(CFH):c.1336+2322TTCT[2]
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000457.5(HNF4A):c.1010_1012TGC[4] (p.Leu341del) rs776489992
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001005361.3(DNM2):c.2292-8C>A
NM_001030001.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser)
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg) rs1480450110
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)
NM_001355436.2(SPTB):c.5794_5798+6del rs1555367318
NM_001429.4(EP300):c.1760+20C>T
NM_001605.3(AARS1):c.836A>G (p.Tyr279Cys)
NM_002296.4(LBR):c.166-12C>T
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_003000.2(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)
NM_003126.4(SPTA1):c.5433-132G>A
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003995.4(NPR2):c.494G>A (p.Arg165His)
NM_004010.3(DMD):c.-193del rs1057518834
NM_004321.8(KIF1A):c.393C>A (p.Asn131Lys)
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu)
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374
NM_016630.7(SPG21):c.452+2dup
NM_030787.3(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030943.3(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) rs1555381324
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly)
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_170665.4(ATP2A2):c.136+21_136+22del

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