ClinVar Miner

List of variants studied for Baller-Gerold syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_004260.3(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591
NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624
NM_004260.3(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854
NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586
NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036
NM_004260.3(RECQL4):c.1460G>A (p.Arg487His) rs775200679
NM_004260.3(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889
NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803
NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.3(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498
NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) rs201734382
NM_004260.3(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554
NM_004260.3(RECQL4):c.1892G>A (p.Arg631His) rs771179943
NM_004260.3(RECQL4):c.1900G>A (p.Val634Met) rs747895651
NM_004260.3(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.3(RECQL4):c.20T>G (p.Val7Gly) rs781721739
NM_004260.3(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229
NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706
NM_004260.3(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413
NM_004260.3(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.3(RECQL4):c.2543G>A (p.Arg848His) rs368989729
NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala)
NM_004260.3(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521
NM_004260.3(RECQL4):c.2967G>A (p.Met989Ile) rs200018416
NM_004260.3(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723
NM_004260.3(RECQL4):c.3055+5G>A rs377031190
NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His) rs34236392
NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys)
NM_004260.3(RECQL4):c.3428T>C (p.Ile1143Thr)
NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser)
NM_004260.3(RECQL4):c.3528G>A (p.Val1176=) rs763965257
NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178
NM_004260.3(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser) rs201542692
NM_004260.3(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378

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