ClinVar Miner

List of variants in gene RECQL4 reported as likely pathogenic for Baller-Gerold syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000008.10:g.(?_145738591)_(145742902_?)dup
NM_004260.3(RECQL4):c.1131+1G>A rs1050860620
NM_004260.3(RECQL4):c.118+2T>C rs1586834813
NM_004260.3(RECQL4):c.1259-1G>A rs372380880
NM_004260.3(RECQL4):c.1390+1G>T rs1085307090
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1704+1G>A rs760363252
NM_004260.3(RECQL4):c.2200+2T>C rs768749064
NM_004260.3(RECQL4):c.2755+1G>A rs373130543
NM_004260.3(RECQL4):c.2756-1G>A rs1564791894
NM_004260.3(RECQL4):c.2866_2885+19del rs1554897134
NM_004260.3(RECQL4):c.2885+1G>T rs1176959485
NM_004260.3(RECQL4):c.2886-2A>G rs1402322681
NM_004260.3(RECQL4):c.3055+1del rs1586794620
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3237-1G>A rs1586791945
NM_004260.3(RECQL4):c.3393+1G>A rs1586790519
NM_004260.3(RECQL4):c.3393+2T>G rs557284122
NM_004260.3(RECQL4):c.3394-1G>C rs752301125
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1132-1G>A
NM_004260.4(RECQL4):c.119-2A>C
NM_004260.4(RECQL4):c.1704+2T>C
NM_004260.4(RECQL4):c.3394-1G>A
NM_004260.4(RECQL4):c.355-1G>T
NM_004260.4(RECQL4):c.84+1G>A

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