ClinVar Miner

List of variants studied for Fanconi anemia complementation group J by Mendelics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.-22C>A rs377620948 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 0.00002
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842

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