List of variants in gene GNAS studied for Pseudohypoparathyroidism type 1B

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=)	rs7121	0.56988
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	rs200910410	0.00008
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe)	rs770140447	0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)	rs146744182	0.00001
GNAS, 4.7-KB DEL
GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup)	rs1569031518
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)	rs1569032751
NM_000516.7(GNAS):c.139+1G>C	rs2089393181
NM_000516.7(GNAS):c.212+6T>G
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser)	rs587778380
NM_000516.7(GNAS):c.296del (p.Leu99fs)	rs2090829910
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_080425.4(GNAS):c.1005G>T (p.Pro335=)	rs536976542
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	rs767104257

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