List of variants in gene GPHN reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_020806.5(GPHN):c.-1C>T	rs768676356	0.00003
NM_020806.5(GPHN):c.198C>G (p.Ile66Met)	rs1231315486	0.00003
GRCh37/hg19 14q23.3(chr14:67347852-67417278)x1
NM_020806.5(GPHN):c.1085C>A (p.Ala362Asp)	rs2075702823
NM_020806.5(GPHN):c.1223G>T (p.Gly408Val)	rs2543059971
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	rs117256383
NM_020806.5(GPHN):c.1342G>T (p.Ala448Ser)	rs2153685279
NM_020806.5(GPHN):c.1547G>C (p.Gly516Ala)
NM_020806.5(GPHN):c.1586A>G (p.Asn529Ser)	rs1085307538
NM_020806.5(GPHN):c.1825A>G (p.Met609Val)
NM_020806.5(GPHN):c.1848G>T (p.Lys616Asn)
NM_020806.5(GPHN):c.1891A>T (p.Arg631Trp)	rs2153717725
NM_020806.5(GPHN):c.2083T>C (p.Ser695Pro)	rs2544477973
NM_020806.5(GPHN):c.550G>A (p.Glu184Lys)	rs2153561484
NM_020806.5(GPHN):c.589C>A (p.Pro197Thr)	rs1567106682
NM_020806.5(GPHN):c.749G>T (p.Ser250Ile)	rs1402811799
NM_020806.5(GPHN):c.908C>T (p.Ser303Leu)	rs1064796317
NM_020806.5(GPHN):c.950G>T (p.Cys317Phe)	rs2153587611

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