ClinVar Miner

List of variants studied for Baller-Gerold syndrome by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2518del (p.Leu840fs) rs2130673117

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