ClinVar Miner

List of variants studied for porphyria by Genome-Nilou Lab

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006660.5(CLPX):c.1146+13G>A rs2946670 0.99995
NM_000140.5(FECH):c.314+23A>G rs577152 0.98504
NM_000140.5(FECH):c.921A>G (p.Pro307=) rs536560 0.74784
NM_000190.4(HMBS):c.88-14G>A rs17075 0.61715
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765

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