ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr) rs371023654 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000057.4(BLM):c.361A>C (p.Thr121Pro) rs774608080 0.00005
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) rs770370129 0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) rs750551907 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) rs369065966 0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126 0.00001
NM_000057.4(BLM):c.577T>C (p.Phe193Leu) rs779348937 0.00001
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His) rs769904341 0.00001
NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile) rs766173546 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_012448.4(STAT5B):c.197A>G (p.Gln66Arg) rs750520285 0.00001
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1657A>G (p.Ile553Val) rs778873363
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.348G>C (p.Lys116Asn) rs749535664
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala)
NM_001048174.2(MUTYH):c.1489G>A (p.Gly497Ser) rs2149088733
NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_002485.5(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)

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