ClinVar Miner

List of variants reported as likely pathogenic for Baller-Gerold syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004260.4(RECQL4):c.3393+2T>G rs557284122 0.00003
NM_004260.4(RECQL4):c.3394-1G>C rs752301125 0.00002
NM_004260.4(RECQL4):c.1132-1G>A rs751503394 0.00001
NM_004260.4(RECQL4):c.1704+2T>C rs772896860 0.00001
NM_004260.4(RECQL4):c.1705-1G>A rs569948031 0.00001
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro) rs977450143 0.00001
NM_004260.4(RECQL4):c.2463+1G>A rs1295396384 0.00001
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3236+1G>A rs1327061374 0.00001
NC_000008.10:g.(?_145738591)_(145742902_?)dup
NC_000008.10:g.(?_145739619)_(145739814_?)del
NM_004260.4(RECQL4):c.1131+1G>A rs1050860620
NM_004260.4(RECQL4):c.1131+2_1131+5del rs2538077097
NM_004260.4(RECQL4):c.1132-2A>G rs1564804563
NM_004260.4(RECQL4):c.118+2T>C rs1586834813
NM_004260.4(RECQL4):c.119-2A>C rs1815370807
NM_004260.4(RECQL4):c.119-2A>G rs1815370807
NM_004260.4(RECQL4):c.1258+1G>A rs2130711906
NM_004260.4(RECQL4):c.1390+1G>A rs1085307090
NM_004260.4(RECQL4):c.1483+1G>A rs1827970204
NM_004260.4(RECQL4):c.1614_1620+14del rs2538052211
NM_004260.4(RECQL4):c.1620+1G>A rs2130702516
NM_004260.4(RECQL4):c.1621-2A>G rs2538046041
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1704+2T>G rs772896860
NM_004260.4(RECQL4):c.1705-1G>C rs569948031
NM_004260.4(RECQL4):c.1705-1del rs1827842344
NM_004260.4(RECQL4):c.1879-1G>A rs2538035560
NM_004260.4(RECQL4):c.2058+2T>G rs2130689994
NM_004260.4(RECQL4):c.214-2A>G rs2538114200
NM_004260.4(RECQL4):c.2200+1G>A rs2538016493
NM_004260.4(RECQL4):c.2200+1G>T rs2538016493
NM_004260.4(RECQL4):c.2200+2T>C rs768749064
NM_004260.4(RECQL4):c.2201-1G>A rs752895450
NM_004260.4(RECQL4):c.2463+2T>C rs2130676059
NM_004260.4(RECQL4):c.2756-1G>A rs1564791894
NM_004260.4(RECQL4):c.2866_2885+19del rs1554897134
NM_004260.4(RECQL4):c.2878_2885+14del rs2537989491
NM_004260.4(RECQL4):c.2885+1G>T rs1176959485
NM_004260.4(RECQL4):c.3055+1G>A rs368585080
NM_004260.4(RECQL4):c.3055+1del rs1586794620
NM_004260.4(RECQL4):c.3055+2T>C rs2130661643
NM_004260.4(RECQL4):c.3056-1G>A rs768685242
NM_004260.4(RECQL4):c.3056-1G>T rs768685242
NM_004260.4(RECQL4):c.3056-2A>G rs786200889
NM_004260.4(RECQL4):c.3056-4_3069del rs2537981842
NM_004260.4(RECQL4):c.3236+1G>C rs1327061374
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile) rs2130657545
NM_004260.4(RECQL4):c.3237-1G>A rs1586791945
NM_004260.4(RECQL4):c.3237-2A>G rs2537974946
NM_004260.4(RECQL4):c.3237-2A>T
NM_004260.4(RECQL4):c.3393+1G>A rs1586790519
NM_004260.4(RECQL4):c.3393+61_3461delinsAG rs2537965574
NM_004260.4(RECQL4):c.3394-1G>A rs752301125
NM_004260.4(RECQL4):c.355-1G>A rs1815108719
NM_004260.4(RECQL4):c.355-1G>T rs1815108719
NM_004260.4(RECQL4):c.691G>A (p.Gly231Ser) rs1001434106
NM_004260.4(RECQL4):c.84+1G>A rs1815425378
NM_004260.4(RECQL4):c.84+2T>G rs2130745099
NM_004260.4(RECQL4):c.85-2A>G rs1227874093

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.