List of variants in gene PITX1 studied for congenital limb malformation

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)	rs479632	0.24653
NM_002653.5(PITX1):c.158C>T (p.Thr53Met)	rs777634577	0.00001
NM_002653.5(PITX1):c.292del (p.Ser98fs)
NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)	rs121909109
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)	rs1752408604
NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)
NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)	rs1752403312
NM_002653.5(PITX1):c.765_799del (p.Ala256fs)	rs730882191
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser)	rs141612135
NM_002653.5(PITX1):c.87del (p.Ala30fs)	rs2149562896

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