ClinVar Miner

List of variants studied for congenital limb malformation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_003282.4(TNNI2):c.277-17G>A rs112517111 0.01558
NM_003282.4(TNNI2):c.150G>A (p.Pro50=) rs139820259 0.00584
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) rs774109272 0.00004
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_001278.5(CHUK):c.446A>G (p.Asn149Ser) rs1589596902
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter)
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515

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