ClinVar Miner

List of variants reported as affects by Australian Red Cross Blood Service

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002036.4(ACKR1):c.199C>T (p.Leu67Phe) rs118062001 0.00495
NM_000420.3(KEL):c.1720G>A (p.Ala574Thr) rs767893228 0.00003
NM_000420.3(KEL):c.257G>A (p.Arg86Gln) rs777011308 0.00001
NM_006563.5(KLF1):c.954G>C (p.Trp318Cys) rs769526751 0.00001
NM_000324.3(RHAG):c.140T>C (p.Phe47Ser) rs2127360274
NM_000420.3(KEL):c.1934C>T (p.Ala645Val) rs147851584
NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr) rs144613404
NM_000420.3(KEL):c.575G>A (p.Arg192Gln) rs754663945
NM_000574.5(CD55):c.203G>A (p.Ser68Asn) rs869312818
NM_005689.4(ABCB6):c.1118_1124del (p.Ala373fs) rs765925019
NM_005689.4(ABCB6):c.1656-1G>A rs879255549
NM_006563.5(KLF1):c.421C>T (p.Arg141Ter) rs1426116895
NM_015865.7(SLC14A1):c.809C>A (p.Ala270Glu) rs777313922
NM_016124.6(RHD):c.270G>C (p.Trp90Cys) rs1248638537
NM_016124.6(RHD):c.277_278delinsGG (p.Leu93Gly) rs2124622201
NM_016124.6(RHD):c.341G>C (p.Arg114Pro) rs530929152
NM_016124.6(RHD):c.452G>A (p.Gly151Asp) rs879255550
NM_016124.6(RHD):c.709G>A (p.Ala237Thr) rs2124675598
NM_016124.6(RHD):c.[186G>T;410C>T455A>C602C>G604G>A733G>C]
NM_020469.3(ABO):c.106dup (p.Val36fs) rs782544248
NM_020469.3(ABO):c.[1061del;467C>T989T>C]
NM_020485.8(RHCE):c.883A>G (p.Met295Val) rs2124414255

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