ClinVar Miner

List of variants in gene C3 reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_000064.4(C3):c.3391-4T>C rs11569510 0.10612
NM_000064.4(C3):c.3391-6T>C rs11569509 0.10608
NM_000064.4(C3):c.3391-8T>C rs11569508 0.10606
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208 0.04973
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207 0.04934
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000064.4(C3):c.1480-4C>A rs200965763 0.00050
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648 0.00041
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011 0.00031
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 0.00017
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941 0.00014
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000064.4(C3):c.4030-4C>T rs372612816 0.00010
NM_000064.4(C3):c.2797-5C>T rs369673832 0.00009
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539 0.00009
NM_000064.4(C3):c.835G>A (p.Glu279Lys) rs146167974 0.00009
NM_000064.4(C3):c.928G>A (p.Gly310Arg) rs139527231 0.00009
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.763A>G (p.Ile255Val) rs746486431 0.00006
NM_000064.4(C3):c.1119+14C>T rs374368486 0.00005
NM_000064.4(C3):c.1508C>T (p.Ala503Val) rs781417846 0.00004
NM_000064.4(C3):c.48C>A (p.His16Gln) rs184455094 0.00003
NM_000064.4(C3):c.1685C>T (p.Ser562Leu) rs200541526 0.00002
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564 0.00001
NM_000064.4(C3):c.2583+9C>T rs372400121 0.00001
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310 0.00001
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905

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