ClinVar Miner

List of variants studied for congenital limb malformation by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_001374353.1(GLI2):c.2263del (p.Ser755fs) rs1553478423
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_005450.6(NOG):c.599T>C (p.Leu200Pro) rs1567745111
NM_018668.5(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_033116.6(NEK9):c.190G>A (p.Gly64Arg) rs1484479258
NM_133433.4(NIPBL):c.5329-15A>G rs587783968

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