ClinVar Miner

List of variants studied for acrofacial dysostosis by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120 0.00016
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766 0.00006
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) rs267606767 0.00004
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys) rs267606769 0.00003
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp) rs267606768 0.00001
NM_022458.4(LMBR1):c.423+4915C>T rs587779752 0.00001
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) rs267606765
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) rs267606767
NM_001361.5(DHODH):c.611del (p.Leu204fs) rs1215488320
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) rs794729674
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) rs875989814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe) rs1064795108
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_022458.4(LMBR1):c.423+4618C>G rs606231146
NM_022458.4(LMBR1):c.423+4808T>C rs606231152
NM_022458.4(LMBR1):c.423+4810G>A rs606231230
NM_022458.4(LMBR1):c.423+4818A>T rs606231148
NM_022458.4(LMBR1):c.423+4842T>C rs606231149
NM_022458.4(LMBR1):c.423+4847T>G rs606231231
NM_022458.4(LMBR1):c.423+4909C>T rs606231153
NM_022458.4(LMBR1):c.423+5134C>G rs606231151
NM_022458.4(LMBR1):c.423+5252A>G rs606231150
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
ZRS, 295T-C
ZRS, 297G-A
ZRS, 328C-G
ZRS, 329T-C
ZRS, 334T-G
ZRS, 396C-T
ZRS, 621C-G
ZRS, 739A-G

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