ClinVar Miner

List of variants in gene F13A1 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (833):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.*1045C>G rs3024487 0.02144
NM_000129.4(F13A1):c.*587G>A rs75981686 0.00859
NM_000129.4(F13A1):c.*966G>T rs138629563 0.00456
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) rs5983 0.00445
NM_000129.4(F13A1):c.2169C>T (p.Asp723=) rs5989 0.00357
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000129.4(F13A1):c.1032T>C (p.Asp344=) rs142274716 0.00215
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) rs143711562 0.00178
NM_000129.4(F13A1):c.*208T>C rs192234804 0.00173
NM_000129.4(F13A1):c.*270C>T rs568780978 0.00096
NM_000129.4(F13A1):c.*1253T>C rs1803604 0.00090
NM_000129.4(F13A1):c.160T>A (p.Phe54Ile) rs138690353 0.00083
NM_000129.4(F13A1):c.1860G>C (p.Leu620=) rs138943514 0.00053
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) rs145180358 0.00053
NM_000129.4(F13A1):c.*67C>T rs182425546 0.00033
NM_000129.4(F13A1):c.130+15C>G rs200488257 0.00025
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) rs745888361 0.00023
NM_000129.4(F13A1):c.1761G>A (p.Ala587=) rs377479323 0.00017
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln) rs139164988 0.00016
NM_000129.4(F13A1):c.102C>T (p.Gly34=) rs187027323 0.00015
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) rs201302247 0.00011
NM_000129.4(F13A1):c.*628G>A rs886061656 0.00010
NM_000129.4(F13A1):c.*927G>A rs746364189 0.00010
NM_000129.4(F13A1):c.*619C>T rs191569585 0.00009
NM_000129.4(F13A1):c.*934G>A rs921932200 0.00009
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000129.4(F13A1):c.*945T>C rs774737661 0.00006
NM_000129.4(F13A1):c.799-13C>T rs188094485 0.00006
NM_000129.4(F13A1):c.2029A>G (p.Met677Val) rs371964182 0.00005
NM_000129.4(F13A1):c.*1030G>T rs548323382 0.00004
NM_000129.4(F13A1):c.*796G>A rs56039031 0.00004
NM_000129.4(F13A1):c.1112+11T>C rs758486753 0.00003
NM_000129.4(F13A1):c.1748-7C>G rs746371632 0.00003
NM_000129.4(F13A1):c.*627G>A rs886061657 0.00002
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) rs1178415419 0.00002
NM_000129.4(F13A1):c.*606T>C rs148907610 0.00001
NM_000129.4(F13A1):c.-28G>A rs886061662 0.00001
NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser) rs750203146 0.00001
NM_000129.4(F13A1):c.2067C>T (p.Thr689=) rs750971578 0.00001
NM_000129.4(F13A1):c.889G>A (p.Val297Ile) rs199564311 0.00001
NM_000129.3(F13A1):c.-95C>G rs192331652
NM_000129.4(F13A1):c.*102G>A rs541596469
NM_000129.4(F13A1):c.*1135G>A rs933569768
NM_000129.4(F13A1):c.*1167T>G rs886061655
NM_000129.4(F13A1):c.*1455G>C rs1760234417
NM_000129.4(F13A1):c.*417G>T rs886061658
NM_000129.4(F13A1):c.*428C>A rs138139907
NM_000129.4(F13A1):c.*42G>A rs886061659
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) rs1761279176
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) rs1458190494
NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)
NM_000129.4(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) rs2113184204
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) rs1483793682
NM_000129.4(F13A1):c.1998A>G (p.Val666=) rs1760383595
NM_000129.4(F13A1):c.2150A>G (p.His717Arg)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.4(F13A1):c.476G>A (p.Arg159His) rs747218826
NM_000129.4(F13A1):c.521G>T (p.Ser174Ile)
NM_000129.4(F13A1):c.542C>T (p.Thr181Met) rs768849968
NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) rs1757621165
NM_000129.4(F13A1):c.691T>A (p.Phe231Ile)
NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) rs1414492888
NM_000129.4(F13A1):c.990A>T (p.Gly330=) rs886061660

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