ClinVar Miner

List of variants studied for Meier-Gorlin syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_181741.4(ORC4):c.763-9del rs66919703

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