ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004260.4(RECQL4):c.3393+2T>G rs557284122 0.00002
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.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.1704+2T>C rs772896860 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
NM_004260.4(RECQL4):c.1132-2A>G
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.1258+1G>A rs2130711906
NM_004260.4(RECQL4):c.1390+1G>A
NM_004260.4(RECQL4):c.1483+1G>A rs1827970204
NM_004260.4(RECQL4):c.1614_1620+14del
NM_004260.4(RECQL4):c.1620+1G>A rs2130702516
NM_004260.4(RECQL4):c.1621-2A>G
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1704+2T>G
NM_004260.4(RECQL4):c.1705-1G>A rs569948031
NM_004260.4(RECQL4):c.1705-1G>C rs569948031
NM_004260.4(RECQL4):c.1705-1del
NM_004260.4(RECQL4):c.1879-1G>A
NM_004260.4(RECQL4):c.2058+2T>G rs2130689994
NM_004260.4(RECQL4):c.214-2A>G
NM_004260.4(RECQL4):c.2200+1G>A
NM_004260.4(RECQL4):c.2200+1G>T
NM_004260.4(RECQL4):c.2200+2T>C rs768749064
NM_004260.4(RECQL4):c.2201-1G>A
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
NM_004260.4(RECQL4):c.2885+1G>T rs1176959485
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
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
NM_004260.4(RECQL4):c.3056-1G>T
NM_004260.4(RECQL4):c.3056-2A>G
NM_004260.4(RECQL4):c.3056-4_3069del
NM_004260.4(RECQL4):c.3236+1G>C
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
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004260.4(RECQL4):c.3393+1G>A rs1586790519
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
NM_004260.4(RECQL4):c.3394-1G>A rs752301125
NM_004260.4(RECQL4):c.355-1G>A
NM_004260.4(RECQL4):c.355-1G>T rs1815108719

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