ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_031466.8(TRAPPC9):c.-74C>A rs139214686 0.00011
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00009
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) rs374403178 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) rs141953092 0.00005
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) rs782134827 0.00005
NM_005529.7(HSPG2):c.9563A>C (p.Gln3188Pro) rs758584149 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_005529.7(HSPG2):c.5516T>C (p.Val1839Ala) rs751036475 0.00002
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg) rs200198786 0.00001
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) rs759874234 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg) rs143361777
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878

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