List of variants reported as pathogenic for bone disorder by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)	rs869312917	0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)	rs869312929	0.00001
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	rs121912637

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