ClinVar Miner

List of variants in gene BEST1 reported as benign for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_004183.4(BEST1):c.*45T>C rs201586629 0.00015
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) rs757536535 0.00003
NM_004183.4(BEST1):c.868-99G>T rs195158

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