ClinVar Miner

List of variants studied for Matthew-Wood syndrome by Baylor Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.4T>C (p.Ser2Pro) rs763026708 0.00003
NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr) rs761695007 0.00001
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_000965.5(RARB):c.841G>T (p.Asp281Tyr) rs1701697256
NM_001080477.4(TENM3):c.4925C>T (p.Thr1642Met) rs375567039
NM_022369.4(STRA6):c.62dup (p.Ser22fs) rs2074102664
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543

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