ClinVar Miner

List of variants reported as uncertain significance for acrocephalopolysyndactyly by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678 0.00003
NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly) rs1016429941 0.00002
NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys) rs374942873 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg) rs771693018
NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)
NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) rs2039479348
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537

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