List of variants studied for rickets by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.1211-36G>A	rs748121039	0.00006
NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala)	rs760162354	0.00004
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe)	rs1945243453
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val)	rs936722686
NM_000444.6(PHEX):c.135_136del (p.Leu47fs)	rs1602244774
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)	rs915608304
NM_000444.6(PHEX):c.1768+173A>G	rs1602402549
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)	rs1602244810
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)	rs1556020770
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu)	rs374826755
NM_001177316.2(SLC34A3):c.1210G>A (p.Gly404Arg)	rs759768852
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile)	rs1060499697
NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg)	rs1588849958
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter)	rs777986863
NM_001177316.2(SLC34A3):c.1556dup (p.Pro520fs)	rs1554785333
NM_001177316.2(SLC34A3):c.560+27_561-38del	rs746082077
NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys)	rs1588846765

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