ClinVar Miner

List of variants reported as benign for pure red-cell aplasia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02327
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00614
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00558
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800 0.00472
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00311
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001022.4(RPS19):c.-1+26G>T rs74449035 0.00283
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00250
NM_000969.5(RPL5):c.325-4A>G rs183825489 0.00247
NM_002049.4(GATA1):c.1173G>A (p.Thr391=) rs61735969 0.00238
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00188
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860 0.00188
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_000969.5(RPL5):c.325-11T>G rs145058455 0.00161
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_002049.4(GATA1):c.201G>A (p.Glu67=) rs61753429 0.00103
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00072
NM_002049.4(GATA1):c.65C>G (p.Ala22Gly) rs139200954 0.00066
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00040
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00038
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu) rs372131208 0.00031
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00028
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_000987.5(RPL26):c.169-16T>C rs201126193 0.00025
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00025
NM_002049.4(GATA1):c.158C>A (p.Ala53Asp) rs142614402 0.00023
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00021
NM_002049.4(GATA1):c.871-20C>T rs368003194 0.00019
NM_002049.4(GATA1):c.942A>G (p.Lys314=) rs150473615 0.00018
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr) rs150572851 0.00016
NM_002049.4(GATA1):c.871-7T>C rs371752832 0.00016
NM_000975.5(RPL11):c.6+19G>T rs563555270 0.00013
NM_002049.4(GATA1):c.1045G>A (p.Val349Met) rs199710067 0.00012
NM_000975.5(RPL11):c.6+18G>A rs544877523 0.00009
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00009
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro) rs782120820 0.00009
NM_002049.4(GATA1):c.361G>A (p.Val121Met) rs200509606 0.00009
NM_000975.5(RPL11):c.6+9C>T rs758722817 0.00008
NM_001011.4(RPS7):c.276C>G (p.Val92=) rs61730448 0.00008
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00007
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001022.4(RPS19):c.173-19C>G rs782495262 0.00006
NM_002049.4(GATA1):c.1230G>A (p.Pro410=) rs201176390 0.00006
NM_002049.4(GATA1):c.295G>A (p.Gly99Ser) rs184815507 0.00006
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) rs140561920 0.00006
NM_002049.4(GATA1):c.594C>A (p.Pro198=) rs369844571 0.00006
NM_002049.4(GATA1):c.678C>T (p.Asn226=) rs370522986 0.00006
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro) rs782012546 0.00006
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_001014.5(RPS10):c.401-9A>G rs760917852 0.00005
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00005
NM_002049.4(GATA1):c.1218T>C (p.Thr406=) rs782300796 0.00005
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr) rs149753411 0.00005
NM_002049.4(GATA1):c.744+5G>A rs376546932 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_000975.5(RPL11):c.213C>T (p.His71=) rs562572818 0.00004
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp) rs202091014 0.00004
NM_002049.4(GATA1):c.745-9G>A rs371005242 0.00004
NM_001011.4(RPS7):c.459C>G (p.Leu153=) rs777622518 0.00003
NM_001011.4(RPS7):c.508-16C>A rs539208774 0.00003
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00003
NM_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_002049.4(GATA1):c.432C>T (p.Asp144=) rs782443272 0.00003
NM_002049.4(GATA1):c.600G>A (p.Glu200=) rs781977639 0.00003
NM_002049.4(GATA1):c.663C>G (p.Gly221=) rs782282009 0.00003
NM_001011.4(RPS7):c.99C>T (p.Asn33=) rs61732234 0.00002
NM_002049.4(GATA1):c.1111G>A (p.Val371Met) rs782414582 0.00002
NM_002049.4(GATA1):c.1170C>G (p.Pro390=) rs782167312 0.00002
NM_002049.4(GATA1):c.1176C>G (p.Gly392=) rs782094568 0.00002
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile) rs782599587 0.00002
NM_000969.5(RPL5):c.795-9C>A rs748765097 0.00001
NM_000975.5(RPL11):c.51C>T (p.Ile17=) rs766157130 0.00001
NM_002049.4(GATA1):c.173C>T (p.Ala58Val) rs782299679 0.00001
NM_002049.4(GATA1):c.221-20T>A rs782005360 0.00001
NM_002049.4(GATA1):c.339C>T (p.Arg113=) rs147681544 0.00001
NM_002049.4(GATA1):c.479A>G (p.Asn160Ser) rs59609788 0.00001
NM_002049.4(GATA1):c.598+3G>A rs782536159 0.00001
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00001
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr) rs782188059 0.00001
NC_000019.10:g.41860144_41860145insGCCA rs34020014
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.74-8dup rs747703119
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+17_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000975.5(RPL11):c.102G>C (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.265-9dup rs2523399897
NM_000975.5(RPL11):c.396+20del rs755457813
NM_000987.5(RPL26):c.310-16dup rs1202522089
NM_000996.4(RPL35A):c.12-10del rs765692254
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_001011.4(RPS7):c.148-7del rs1238368020
NM_001011.4(RPS7):c.357-16dup rs1314041858
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001022.4(RPS19):c.356+14delinsGG rs782448362
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg) rs781979595
NM_002049.4(GATA1):c.212A>C (p.His71Pro) rs374300356
NM_002049.4(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.4(GATA1):c.338G>A (p.Arg113His) rs782208453
NM_002049.4(GATA1):c.599-16_599-14del rs782736246
NM_002049.4(GATA1):c.93G>T (p.Gly31=) rs368193049

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