ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_004260.3(RECQL4):c.1131+1G>A rs1050860620
NM_004260.3(RECQL4):c.118+2T>C
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
NM_004260.3(RECQL4):c.2755+1G>A
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
NM_004260.3(RECQL4):c.2886-2A>G rs1402322681
NM_004260.3(RECQL4):c.3055+1del
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3237-1G>A
NM_004260.3(RECQL4):c.3393+1G>A
NM_004260.3(RECQL4):c.3393+2T>G
NM_004260.3(RECQL4):c.3394-1G>C

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