ClinVar Miner

List of variants in gene PKD1, TSC2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000016.10:g.(?_2048587)_(2088712_?)dup
NC_000016.10:g.(?_2064272)_(2088712_?)dup
NM_000548.4(TSC2):c.*102+25T>G rs34379884
NM_000548.4(TSC2):c.*102+26G>A rs730882074
NM_000548.4(TSC2):c.*102+43del rs202247051
NM_000548.4(TSC2):c.*102+52dup rs397514891
NM_000548.4(TSC2):c.*127T>C rs34379884

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