ClinVar Miner

List of variants in gene NPHP1 studied for Senior-Loken syndrome 1

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP
NM_000272.3(NPHP1):c.625-3dup	rs200118387
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)	rs375907280
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)	rs140446520
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)	rs114250691
NPHP1, DEL

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