ClinVar Miner

List of variants studied for rickets by MGZ Medical Genetics Center

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	rs199690076	0.00059
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs)	rs771816857	0.00021
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)	rs886041224
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs)	rs757714479

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